Myopathy, Isolated Mitochondrial, Autosomal Dominant |
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Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Decre... |
OMIM:616209 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
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Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
Mitochondrial Myopathy With Diabetes |
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Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber... |
OMIM:500002 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Polyglucosan Body Myopathy 2 |
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Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... |
OMIM:619518 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... |
OMIM:602541 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
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Tremor, Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping |
OMIM:614369 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Sandhoff Disease, Adult Form |
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Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Upper limb muscle weakne... |
ORPHA:309169 |
Nonaka Myopathy |
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Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti... |
OMIM:605820 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Combined Oxidative Phosphorylation Deficiency 6 |
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Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fiber... |
OMIM:300816 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Depress... |
ORPHA:352470 |
Exercise Intolerance, Riboflavin-Responsive |
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Ragged-red muscle fibers |
OMIM:616839 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... |
OMIM:613561 |
Welander Distal Myopathy |
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Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Peripheral retinal avascularization, Rhegmatogenous retinal detachment, Subretin... |
ORPHA:891 |
Spastic Paraplegia Type 7 |
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Ragged-red muscle fibers, Abnormal pyramidal sign, Abnormal mitochondrial morphology, Babinski si... |
ORPHA:99013 |
Myopathy, Vacuolar, With Casq1 Aggregates |
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Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-containing inclu... |
OMIM:616231 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Ataxia, Failure to thrive in infancy, Babinski sign, Decreased activity of mitochondrial complex ... |
OMIM:619065 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Combined Oxidative Phosphorylation Deficiency 49 |
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Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... |
OMIM:619024 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Urinary incon... |
OMIM:604320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
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Ataxia, Ragged-red muscle fibers, Decreased activity of mitochondrial complex III, Athetosis, Abn... |
OMIM:615159 |
Frontotemporal Dementia With Motor Neuron Disease |
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Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Abnorma... |
ORPHA:275872 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ... |
ORPHA:90103 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... |
OMIM:616733 |
Erythrokeratodermia Variabilis |
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Alopecia, Diabetes mellitus, Short stature, Hypermelanotic macule, Corneal opacity, Cataract, Abn... |
ORPHA:317 |
Spinal Muscular Atrophy, Type Iv |
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Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... |
OMIM:620068 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati... |
ORPHA:178464 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
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Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy, Paralysis |
OMIM:613710 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Skeletal muscle atrophy, Recurrent urinary tract infections, Bone spicule pigmentation of the ret... |
OMIM:609033 |
Myopathy, Myofibrillar, 5 |
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Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm... |
OMIM:609524 |
Hsd10 Mitochondrial Disease |
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Restlessness, Hypoglycemia, Aggressive behavior, Visual loss, Sensorineural hearing impairment, O... |
OMIM:300438 |
Spinal Muscular Atrophy, Jokela Type |
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Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... |
OMIM:615048 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Limited w... |
OMIM:108145 |
Eales Disease |
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Rhegmatogenous retinal detachment, Vitritis, Iris neovascularization, Vitreous floaters, Macular ... |
ORPHA:40923 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s... |
OMIM:604168 |
Distal Myopathy With Anterior Tibial Onset |
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Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Glut1 Deficiency Syndrome 1 |
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Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Generalized dystonia, Macroglossia, Myoclonus, Oromandibular dystonia |
ORPHA:412217 |
Spinocerebellar Ataxia 43 |
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Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy |
OMIM:617018 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Methylmalonic acidemia, Skeletal muscle atrophy, Abnormal mitochondrial shape, Decreased activity... |
ORPHA:17 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Cataract, Short stature, Macular atrop... |
OMIM:616171 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating acylcarnitine concentration, Myopathy, Hypertonia, Dystonia, Lethargy, Failu... |
ORPHA:26792 |
Central Retinal Vein Occlusion |
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Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Abnormal anteri... |
ORPHA:411527 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Respiratory insufficiency due to muscle weakness... |
OMIM:617087 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Posteriorly rotated ears, Decreased activity of mitochondrial ATP... |
OMIM:618378 |
Renal Hypoplasia, Bilateral |
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Neonatal respiratory distress, Small for gestational age, Proteinuria, Microscopic hematuria, Sho... |
ORPHA:97362 |
Charcot-Marie-Tooth Disease, Type 4C |
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Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Decreased motor n... |
OMIM:601596 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... |
OMIM:302800 |
Episodic Ataxia, Type 1 |
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Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Autoimmune Hypoparathyroidism |
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Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal... |
ORPHA:36913 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Recurrent coughing spasms, Sensorineural hearing impairment, Distal am... |
OMIM:607736 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Increased serum pyruvate, Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Blue Diaper Syndrome |
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Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Failure to thrive, Ataxia, Abnormal pyramidal sign, Decreased activity o... |
OMIM:618228 |
Cherubism |
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Bone cyst, Optic atrophy, Upper airway obstruction, Proptosis, Progressive visual loss, Visual im... |
ORPHA:184 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
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Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Decreased activity of mitochondrial co... |
OMIM:618242 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Cataract, Optic atrophy, Pr... |
OMIM:617481 |
Pontocerebellar Hypoplasia, Type 6 |
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Appendicular spasticity, Lower limb spasticity, Elbow contracture, Decreased activity of mitochon... |
OMIM:611523 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Reduced forced vital capacity, Axonal degeneration, Lacticaciduria, Distal a... |
OMIM:618811 |
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Optic disc pallor, Slow-growing hair, Uplifted earlobe, Cerebral visual impairment, Optic atrophy... |
OMIM:615722 |
Myopathy, Myofibrillar, 3 |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph... |
OMIM:609200 |
Benign Samaritan Congenital Myopathy |
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Lethargy, Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skelet... |
ORPHA:324581 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Congenital contracture, Joint contracture of the 5th finger, Compulsive behaviors, Atrial septal ... |
ORPHA:352490 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ... |
ORPHA:266 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Constipa... |
OMIM:614877 |
Spinocerebellar Ataxia 28 |
|
Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hyper... |
OMIM:610246 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thick eyebrow, Oral-pharyngeal dysphagia, Postnatal growth retardation, Synophrys, Prominent prot... |
ORPHA:480907 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Blindness, Cataract, Abnor... |
ORPHA:791 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Protruding ear, Deeply set eye, T... |
ORPHA:3041 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hyp... |
OMIM:612462 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... |
OMIM:609560 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... |
OMIM:618120 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy... |
OMIM:311070 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ... |
OMIM:620389 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, In... |
OMIM:616794 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Cyanosis, Rhabdomyolysis, Ventricular... |
ORPHA:159 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetan... |
OMIM:103580 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, My... |
OMIM:312170 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Blindness, Decreased nerve conduction velocity, Optic atrophy, Vomiting... |
OMIM:245200 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cachexia, Hypertelorism, Pectus excavatum, Kyph... |
ORPHA:2471 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Blind-spot enlargment, Sensorin... |
OMIM:614296 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De... |
OMIM:193220 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... |
OMIM:239000 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotr... |
ORPHA:352447 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu... |
OMIM:608423 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Involuntary movements, Upper limb postural tremor, Decreased activity of mitochondrial complex IV... |
ORPHA:477774 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet... |
ORPHA:488650 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Neuromyelitis Optica Spectrum Disorder |
|
Nausea, Visual loss, Functional abnormality of the bladder, Respiratory failure, Optic neuritis, ... |
ORPHA:71211 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Synophrys, Low anterior hairline, Protruding ear, Gastroesophageal reflux,... |
ORPHA:329224 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Dyspnea, Congestive heart failure, Flexion contr... |
ORPHA:220393 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Protruding ear, Abnormal optic disc morphology, Microp... |
ORPHA:293967 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Neuropath... |
OMIM:607706 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Blindness, Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal auto... |
OMIM:204200 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Decreased activity of mitochondrial ATP synthase complex, Small for gestational age, Decreased ac... |
OMIM:610498 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral microphthalmos, Microcornea, H... |
ORPHA:2334 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Recurrent fractures, Vitreous... |
OMIM:133780 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... |
OMIM:610951 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... |
OMIM:614895 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Babinski sign, Br... |
OMIM:619063 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Hypo... |
OMIM:162100 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abnormal renal tubule morphology, Pericarditis, Myocarditis, Diarrhea, Oligu... |
ORPHA:188 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Renal dysplasia, Inguinal hernia, Hypospadias, Short stature, Abnormal hair pattern, Renal hypopl... |
ORPHA:2508 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Blindness, Cataract, Fundus atrophy, Sensorineural hearing impairment,... |
OMIM:204000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Decreased motor nerve conduction velocity, Decreased distal sen... |
ORPHA:206594 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Cerebral cortical atrophy, Neurodegeneration, ... |
OMIM:617672 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Decreased activity of mitochondrial complex III, Protruding ear, Gastroe... |
OMIM:615471 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Elevated... |
OMIM:613954 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Renal... |
ORPHA:1166 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Letha... |
OMIM:233910 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Proteinuria, Pneumonia, Weakness of facial... |
ORPHA:247691 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, D... |
OMIM:161800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c... |
OMIM:254110 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Diastasis recti, Short stature, Postnatal growth retarda... |
ORPHA:231140 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Corneal opacity, Abnormal form of the vertebral... |
ORPHA:2370 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Osteomyelitis, Cataract, Bowel incontinence, Kyphosis, R... |
ORPHA:88628 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrh... |
ORPHA:340 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Decreased activity of mitochondrial complex I, Myopathy, Failure to thrive, Nemaline bodies |
OMIM:618246 |
Lassa Fever |
|
Back pain, Shock, Cough, Dyspnea, Diarrhea, Jaundice, Oliguria, Conjunctivitis, Dysphagia, Hearin... |
ORPHA:99824 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio... |
ORPHA:97240 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb muscle weakness, Centr... |
OMIM:615035 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Ragge... |
OMIM:500009 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Aggressive behavior, Bone cyst, Cerebral atrophy, Axonal l... |
OMIM:221770 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Inguinal hernia, Thick eyebrow, Ventricular septal defect, Highly arched eyebr... |
OMIM:618950 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Flexion contracture, Abnormality of the ear, Knee flexion contracture, ... |
OMIM:214150 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Developmen... |
OMIM:127000 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Elevated circulating cre... |
OMIM:160500 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Short stature, Abnormal heart valve morphology, Corne... |
ORPHA:577 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop... |
OMIM:616924 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:619790 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hyperpigmentation of the skin, Camptodactyly of finger, Hypopigme... |
ORPHA:2251 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Dystonia, Ataxia, Tetraparesis, Tongue fasciculations, Type 1 muscle fib... |
OMIM:618276 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Proximal amyotrophy,... |
OMIM:604484 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, W... |
OMIM:611705 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur... |
ORPHA:972 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Highly arched eyebrow, ... |
OMIM:615834 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Cerebral visua... |
ORPHA:401777 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Joint hypermobility, Severe demyelination of th... |
ORPHA:481152 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle... |
OMIM:606483 |
Cystinosis |
|
Photophobia, Aminoaciduria, Vomiting, Nephropathy, Abnormal repetitive mannerisms, Hypothyroidism... |
ORPHA:213 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Short stature, Facial palsy, Thoracolumbar scolios... |
OMIM:255600 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Weigh... |
OMIM:613662 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Gait ataxia, Hypertonia, Spasticity, Failure to thrive |
ORPHA:543470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Myopathy, Centronuclear, 4 |
|
Frequent falls, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomina... |
OMIM:614807 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:620235 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Blindness, Hypoglycemia, Cyanosis, Retinal degeneration, ... |
ORPHA:391428 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ... |
OMIM:254130 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Small hypot... |
OMIM:609311 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Ataxia, Myoclonus, Decreased activity of mitochondrial complex I, Letha... |
OMIM:618225 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Flexion contracture, Protruding ear, Photophobia, Microcornea, Sparse hair, Tiger t... |
OMIM:601675 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Recurrent pneumonia, Optic atrophy, Protruding ear, Growt... |
ORPHA:1495 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Blindness, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atrophy, Ce... |
OMIM:256730 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... |
OMIM:620378 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Mildly elevated ... |
ORPHA:399086 |
Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ... |
ORPHA:354 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Abnormal pinna morphology, Abnormality of the up... |
ORPHA:411590 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske... |
OMIM:614321 |
Filippi Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Opti... |
OMIM:272440 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebral visual impairment, Synophrys, Protruding ear, Deeply set eye, Gastroesophageal reflux, C... |
OMIM:618443 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Axonal degeneration, Thoracic kyphosis, Juvenile cataract, Mitochondrial respiratory ... |
ORPHA:909 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Neonatal respiratory distress, Diabetes mellitus, Posteriorly rotated ears, Highly arched eyebrow... |
OMIM:618622 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Short stature, Corneal opacity, Dyspnea, ... |
ORPHA:87876 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Cranial nerve compression, Generalized amyotrophy, Urinary ... |
ORPHA:52430 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Diaphyseal sclerosis... |
ORPHA:94089 |
Myopathy, Myofibrillar, 2 |
|
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl... |
OMIM:608810 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Myopia, Sacral dimple, Facial hypotonia, Short stature, Highly arched eyebrow, Protruding ear, Lo... |
OMIM:618522 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavi... |
OMIM:152950 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Sensorine... |
OMIM:618342 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in... |
OMIM:300718 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra... |
OMIM:617069 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dysmetria, Premature graying of hair, Dysdiadochokinesis, Distal lower lim... |
OMIM:619903 |
Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Decreased... |
OMIM:603034 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Hypertelorism, Punctate vertebral calcifications, Optic atrophy, Respirator... |
ORPHA:1914 |
Trichothiodystrophy |
|
Osteopenia, Ridged nail, Multiple joint contractures, Brittle hair, Protruding ear, Photophobia, ... |
ORPHA:33364 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Upper limb muscle weakness, Scoliosis, Lower limb muscle weakness, Foot dors... |
OMIM:616155 |
Vernal Keratoconjunctivitis |
|
Scarring, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Decreased activity of mitochondrial respiratory chain, Spastic tetraparesis, O... |
OMIM:605711 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Protruding ear, Abnormality of vision, Deeply set eye, Vomiting, Gastroesophageal ref... |
ORPHA:464311 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Skeletal muscle atrophy, Abnormal pinna morpholog... |
ORPHA:3068 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Hyperalaninemia, Failure to thrive, Mitochondrial ... |
OMIM:618250 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Distal Deletion 10Q |
|
Hypoplastic toenails, Functional abnormality of the bladder, Protruding ear, Hypotelorism, Vesico... |
ORPHA:96148 |
Cln3 Disease |
|
Cerebellar atrophy, Blindness, Cataract, Bull's eye maculopathy, Aggressive behavior, Amblyopia, ... |
ORPHA:228346 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Blindness, Cataract, Fundus atrophy, Nyctalopia, Absent foveal re... |
OMIM:204100 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Myoclonus, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Failure to thrive in infancy, Synophrys, Decreased activity of mitochondrial com... |
OMIM:619064 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Blindness, Reduced terminal:vellus ratio, Reduced visual acuity, Sparse hair, Macular dystrophy, ... |
OMIM:601553 |
Winchester Syndrome |
|
Corneal opacity, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Gener... |
OMIM:277950 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Hypertelorism, Kyphosis, Synophrys, Protruding ear, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Short stature, Aggressive behavior, Large for gestational age, Synophrys, Protruding ear, Growth ... |
OMIM:616116 |
Fg Syndrome 2 |
|
Underdeveloped superior crus of antihelix, Protruding ear, Constipation, Frontal upsweep of hair,... |
OMIM:300321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Axonal regeneration, Distal lower lim... |
OMIM:615185 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Hy... |
ORPHA:42 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures |
OMIM:241410 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract, Short stature, Hypergonadotrop... |
ORPHA:3085 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Decreased activit... |
OMIM:252011 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Upper limb muscle weakness,... |
OMIM:605253 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Impaired oropharyngeal swallow response, Distal lower limb muscle weakness, Onion bulb formation,... |
ORPHA:98916 |
Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... |
OMIM:608673 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Adipose tissue loss, Hepatic fibrosis, Fasting hypoglycemia, Hyperglycem... |
OMIM:246200 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Sinusitis, Pericarditis, Epista... |
ORPHA:727 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Increased mitochondrial number, Tremor, Dysmetria, Decreased activity of... |
OMIM:615578 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Myocardial infarction, Splenomegaly, Facial diplegia,... |
OMIM:205400 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Photophobia, Tub... |
OMIM:203800 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Deeply se... |
ORPHA:464306 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Keratoconjunctivitis sicca, Punctate kerat... |
OMIM:617388 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn... |
OMIM:614436 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Reduced visual acuity, Urinary urge... |
ORPHA:101111 |
Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Short stature, Constriction of peripher... |
ORPHA:644 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Abnormal mucociliary clearance, D... |
ORPHA:90051 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Generalized joint laxity, Functional abnormality of the... |
ORPHA:2953 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Subcortical cerebral atrophy, Gastroesophageal reflu... |
ORPHA:468678 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Decreased motor ... |
OMIM:618184 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath... |
OMIM:182815 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Abnormal form of the verteb... |
ORPHA:581 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ... |
OMIM:253601 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Kyphoscoliosis, Sensorineural hearing impairment, Axonal loss, Periphera... |
OMIM:616684 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Urinary incontin... |
OMIM:604360 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce... |
OMIM:620386 |
Dpm3-Cdg |
|
Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevat... |
ORPHA:263494 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Cerebral visual impairment, Hype... |
OMIM:115150 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, ... |
OMIM:211900 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Tremor, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... |
OMIM:618951 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Diaphr... |
OMIM:614399 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib... |
OMIM:618416 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase... |
ORPHA:663 |
Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy, Respiratory insufficiency, Growth delay, Hearing... |
OMIM:617899 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, Lethargy |
OMIM:618224 |
Trisomy 5P |
|
Hypoplasia of penis, Short stature, Renal hypoplasia/aplasia, Hypertelorism, Obesity, Protruding ... |
ORPHA:1742 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Hepatomegaly, Short neck, ... |
ORPHA:61 |
Lethal Congenital Contracture Syndrome 8 |
|
Oral-pharyngeal dysphagia, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthro... |
OMIM:616287 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Growth delay, Proptosis, Long eyelashes, Visual impairment |
ORPHA:411493 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, ... |
ORPHA:238329 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Hypertelorism, Optic atrophy, Low anterior hairline, Cerebral atrophy, Protruding ear, ... |
OMIM:614219 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Conductive hearing impairment, Atrial septal defect, Hypothyroidism, Gener... |
ORPHA:254346 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Spinal rigid... |
ORPHA:97244 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Shock, Renal insufficiency, Stiff neck, Crackles, Nonproductive cough, Diar... |
ORPHA:319213 |
Carey-Fineman-Ziter Syndrome 2 |
|
Posteriorly rotated ears, Protruding ear, Abnormal skeletal muscle morphology, Low-set ears, Scol... |
OMIM:619941 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Dysmetria, Spastic dipleg... |
OMIM:238970 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Short stature, Hyperlordosis, Increased adipose tissue, Kyphosis, Spinal rigidity, Resp... |
OMIM:617404 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Short stature, Respiratory insufficiency, Distal amyotroph... |
OMIM:619042 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Atrophy/Degeneration affecting the brainste... |
OMIM:608027 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Decreased activity of mitochondrial respiratory chain, Decreased activity of mitochondria... |
OMIM:614299 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walkin... |
ORPHA:99845 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Restri... |
OMIM:606612 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Restricted large joint movement, Optic atrophy, Severely reduced visual acuity, Hearin... |
OMIM:309555 |
Jaberi-Elahi Syndrome |
|
Myopia, Brittle hair, Sparse eyelashes, Cataract, Joint stiffness, Sparse eyebrow, Kyphosis, Opti... |
OMIM:617988 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Limb joint contracture, Short stature, Hyperconvex nail, Cryptorchidism, Synophrys, ... |
OMIM:300004 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Oral-pharyngeal dysphagia, Short neck, Synophrys, Prominent protruding coccyx, Protru... |
OMIM:300966 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
Cach Syndrome |
|
Cerebellar atrophy, Blindness, Cataract, Dysmyelinating leukodystrophy, Atrophy/Degeneration affe... |
ORPHA:135 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Heterochromia iridis, ... |
OMIM:609136 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Distal lower limb amy... |
OMIM:600882 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Ast... |
ORPHA:2323 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Fatty replacement of skeletal muscle, Decreased compound muscle action potential amplitude, Dista... |
OMIM:618279 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Posteriorly rotated ears, Hypertelorism, Flexion contracture, Protruding ear, Low-set ears, Dysph... |
OMIM:620001 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Sacral dimple, Abnormal pinna morphology, Short stature, Highly arched eyeb... |
OMIM:617452 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Photophobia, Coarse hair, Anterior beaking of lumbar vertebrae, ... |
OMIM:253220 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Severe demyelination of the white matter, Intrauterine ... |
ORPHA:79282 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Le... |
ORPHA:247525 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Hypotelorism, Recurrent hypoglycemia, Sparse hair, Hypothyroidism, Ab... |
OMIM:616817 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
Sandhoff Disease |
|
Hepatomegaly, Blindness, Kyphosis, Congestive heart failure, Splenomegaly, Cherry red spot of the... |
ORPHA:796 |
2P15P16.1 Microdeletion Syndrome |
|
Protruding ear, Multicystic kidney dysplasia, Facial palsy, Sparse eyebrow, Scoliosis, Low-set ea... |
ORPHA:261349 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Protruding ear, Weakness of facial musculature, Li... |
OMIM:610313 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Dec... |
OMIM:605285 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,... |
OMIM:603689 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
Chromosome 10Q26 Deletion Syndrome |
|
Short neck, Protruding ear, Atrial septal defect, Vesicoureteral reflux, Micropenis, Scapular win... |
OMIM:609625 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn... |
OMIM:607731 |
Gómez-López-Hernández Syndrome |
|
Short stature, Corneal opacity, Hypertelorism, Low-set ears, Alopecia of scalp, Toenail dysplasia... |
ORPHA:1532 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ... |
ORPHA:254886 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Abnor... |
ORPHA:171445 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Ataxia, Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleu... |
ORPHA:2394 |
Behr Syndrome |
|
Cerebellar atrophy, Blindness, Achilles tendon contracture, Optic atrophy, Adductor longus contra... |
OMIM:210000 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Hypertonia, Tetraplegia |
OMIM:274270 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Elevated circulating creatine kinase concentration, Abnormal muscle ... |
ORPHA:75840 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias,... |
OMIM:301056 |
Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Hyperactivity, Foot joint contracture, Spinal muscular atrophy, Highly arched eyeb... |
ORPHA:166108 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Optic nerv... |
ORPHA:85284 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cereb... |
ORPHA:497764 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g... |
OMIM:603511 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr... |
OMIM:607677 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Synophrys, Abnormal curvature of the vertebral column, Protrudi... |
OMIM:619475 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylol... |
OMIM:600561 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperalaninemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Decreased a... |
OMIM:619386 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Photophobia, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... |
OMIM:607791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Decreased activity of mitochondrial complex IV, Myopathy, Limb dystonia... |
OMIM:604377 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Oliguria, Weight loss, Central hypothyroidism, Progressive hearing impairment, Exertion... |
ORPHA:514 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Back pain, Urinary incontinence, Axonal degeneration, Abnormality... |
ORPHA:139399 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Increased vertebral height, Gastroesophageal refl... |
OMIM:613385 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Short neck, Dyspnea, Respiratory failure, Proptos... |
ORPHA:1832 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hemivertebrae, Protruding ear, Gastroesophageal reflux, Micropenis, Myopia, Short stature, Highly... |
OMIM:156200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Diminished motivation, Incoordination, Ataxia, Resting tremor, Dystonia,... |
OMIM:615157 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Myopia, Lumbar hyperlordosis, Retinal dystrophy, Short stature, Kyphosis, Delayed myelination, Se... |
OMIM:616756 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Myopia, Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Respiratory insufficien... |
OMIM:613156 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Short stature, Abnormal mitral valve morphology, Hyperlordosis, Cryptorchidism, Sens... |
ORPHA:1192 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, Protruding ear, Deeply set eye, Micropenis, Distal lower limb amyotrophy, My... |
OMIM:300534 |
Galactosialidosis |
|
Corneal opacity, Abnormality of the vertebral column, Cherry red spot of the macula, Abnormal ver... |
ORPHA:351 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Protruding ear, Deep... |
ORPHA:85279 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Corneal opacity, Congenital diaphragmatic hernia, S... |
OMIM:166300 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Limited interphalangeal movement, Limited wrist movement, Decreas... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Shashi-Pena Syndrome |
|
Hypoglycemia, Posteriorly rotated ears, Highly arched eyebrow, Unilateral renal agenesis, Hyperte... |
OMIM:617190 |
Cockayne Syndrome B |
|
Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Abnormal... |
OMIM:133540 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Delayed CNS myelination, Contracture of the proximal interphalangeal joint of ... |
OMIM:617201 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... |
OMIM:278730 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Decreased nerve conduction velocity, Dysphagia, CNS demyelination, Peripher... |
OMIM:249900 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph... |
OMIM:614856 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Band keratopathy, Ob... |
ORPHA:79443 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... |
OMIM:300717 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Spasticity, Abnormal mitochondrial shape |
ORPHA:485421 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Small for gestational age, Short stature, Flexion contracture, Optic atrophy, Large earlobe, Prop... |
OMIM:618346 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Babinski sign, Dystonia, Decreased activity of mitochondrial complex I, Lethargy, Failure... |
OMIM:618226 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc... |
OMIM:612937 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Respiratory insuf... |
OMIM:611067 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Short stature, Hypertelorism, Abnormal hair morphology, Absent retinal pigment epithelium, Sensor... |
OMIM:122430 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Restless legs, Hand muscle weakness, Quadriceps muscle weakness, Se... |
ORPHA:99947 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Corneal... |
ORPHA:812 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Protruding ear, Vertebral segmentation defect, Vesic... |
ORPHA:96169 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Myopia, Abnormality of the musculature of the lower limbs, Retinal dystrophy, Urinary incontinenc... |
ORPHA:464282 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Tel... |
OMIM:615381 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Cerebral visual impairment, Secretory diarrhea, Bloody diarrhea, Vomiting, Nephrotic rang... |
ORPHA:544482 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Bilateral cryptorchidism, Synophrys, Low anterior hairline, Pica, Deeply set eye, Abnormal repeti... |
OMIM:617796 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Hypospadias, Short stature, Pectus excavatum, Hypoplastic toenails, Prot... |
ORPHA:2013 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Abnormality of the mitochondrion, Dystonia |
ORPHA:330050 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Retinal pigment epithelial mottling, Myopathy, Corticospinal tract atrophy, Rod-cone d... |
OMIM:551500 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Donnai-Barrow Syndrome |
|
Omphalocele, Retinal detachment, Myopia, Proteinuria, Posteriorly rotated ears, Congenital diaphr... |
ORPHA:2143 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Trisomy 20P |
|
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced bone mineral de... |
ORPHA:261318 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Hand muscle weakness, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... |
ORPHA:2932 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Centrally nucleated skeletal muscle fi... |
OMIM:618484 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Hypertelorism, Kyphosis, Synophrys, Protruding ear, Scoliosis, Hirsutism |
OMIM:300861 |
Cockayne Syndrome A |
|
Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalanges of the hand, Abnormal... |
OMIM:216400 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia, Parkinsonism with favorable respons... |
ORPHA:240085 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Conductive hearing imp... |
OMIM:611209 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinemia, Myoclonus |
OMIM:605899 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Sciatica, Peripheral axonal neuropathy, Urinary bladder sphincter dysfunction, Peripheral demyeli... |
ORPHA:231445 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Calf... |
ORPHA:34515 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
Adnp Syndrome |
|
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Cerebral visual impairment... |
ORPHA:404448 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve ... |
ORPHA:496790 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Tachycardia, Large central visual field defect, Apnea, Epi... |
ORPHA:79264 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Deeply set eye, Generalized amyotrophy, ... |
OMIM:620351 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... |
ORPHA:169186 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Optic Pathway Glioma |
|
Papilledema, Blindness, Precocious puberty, Visual loss, Vertigo, Neurofibroma, Optic atrophy, Re... |
ORPHA:2086 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... |
OMIM:208920 |
Crouzon Syndrome |
|
Amblyopia, Hypertelorism, Abnormal sacrum morphology, Optic atrophy, Hypopigmented skin patches, ... |
ORPHA:207 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Goiter... |
OMIM:274300 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hepatomegaly, Sacral dimple, Hyperactivity, Short stature, Highly arched eyebro... |
OMIM:619695 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea |
ORPHA:2432 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... |
ORPHA:101077 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ... |
OMIM:617070 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Vesicourete... |
OMIM:613174 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Hurler Syndrome |
|
Short neck, Flexion contracture, Hernia, Endocardial fibroelastosis, Retinal degeneration, Hepato... |
OMIM:607014 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... |
ORPHA:254892 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Abnormal optic nerve morphol... |
OMIM:605039 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Obesity, Hyperphosph... |
ORPHA:79444 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur... |
ORPHA:401901 |
Fragile X Syndrome |
|
Joint laxity, Sinusitis, Macroorchidism, Protruding ear, Mitral valve prolapse, Folate-dependent ... |
ORPHA:908 |
Chops Syndrome |
|
Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Thickened helices, Vesicou... |
OMIM:616368 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Severe short stature, Ventricular septal defect, Camptodactyly... |
ORPHA:1425 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Abnorma... |
ORPHA:93160 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Opacificat... |
OMIM:270200 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Myopia, Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Develop... |
OMIM:617183 |
Neuroectodermal Melanolysosomal Disease |
|
Myopia, Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying... |
ORPHA:33445 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Small for gestational age, Abnormal pinna morphology, Ventricular septal defect, Optic... |
ORPHA:3078 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra... |
OMIM:618992 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Claw hand deformity, Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Ab... |
OMIM:601455 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Short stature, Highly arched eyebrow, Proptosis, Attention deficit hyperactivity disorder, Hearin... |
OMIM:608716 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71526 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... |
OMIM:618387 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cardiomyopathy, Distal a... |
OMIM:610100 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, Fa... |
OMIM:614096 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Blindness, Cataract, Short stature, Abnormal fingernail morphology, Corneal dystrophy, Sclerocorn... |
ORPHA:1806 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Hypertelorism, Kyphosis, Osteolysis, P... |
ORPHA:137834 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Sagittal craniosynostosis, Pectus excavatum, Nyctalopia, Recurrent pneumonia, Decr... |
OMIM:614378 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Short stature, Aggressive behavior, Cerebral atrophy, Proptosis, Attention deficit hyperactivity ... |
OMIM:618492 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:610542 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Hypermetropia, Protruding ear, Large ea... |
OMIM:620191 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Keratoconus, Macular atrophy, Nyctalopia, ... |
OMIM:604393 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Arrhythmia, Pe... |
ORPHA:99944 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E... |
OMIM:619566 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, ... |
OMIM:615838 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypoh... |
OMIM:617744 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Protruding ear, Hyperconvex finge... |
ORPHA:192 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... |
OMIM:620265 |
Char Syndrome |
|
Distal/middle symphalangism of 5th finger, Highly arched eyebrow, Hypertelorism, Protruding ear, ... |
OMIM:169100 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Decreased motor nerve conduction velocity, Froment sign, Segmental peripher... |
OMIM:162500 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Limb joint contracture, Small for gestational age, Inability to walk, Achilles... |
ORPHA:404454 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Flexion contracture, Hepatic steatosis, Hepatomegaly, Hyperlordosis, Centrally nuclea... |
OMIM:613327 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, Limb dystonia, ... |
ORPHA:71517 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypoglycemia, Camptodactyly of finger, Acute rhabdomyolysis, Short stature, Hypogonadot... |
ORPHA:48431 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Sensorineural hearing impairment,... |
OMIM:614455 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio... |
OMIM:300559 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Ve... |
ORPHA:423 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Cataract, Nyctalopia, Reduce... |
OMIM:613731 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Choreoathetosis, Lower limb hypert... |
ORPHA:319514 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... |
ORPHA:1878 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Short stature, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Sens... |
ORPHA:93476 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Urinary incontinence, Lower limb muscle weakness, Decreased nerve conduc... |
OMIM:615284 |
X-Linked Intellectual Disability, Abidi Type |
|
Short stature, Pectus excavatum, Protruding ear, Scoliosis, Decreased testicular size, Hearing im... |
ORPHA:85273 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:258450 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Blindness, Impulsivity, Optic atrophy, Compulsive behaviors, Dysphagia, Violent behavior, Retinop... |
ORPHA:216873 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Congestive heart failure, Flex... |
ORPHA:157973 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma |
ORPHA:2611 |
Barth Syndrome |
|
Failure to thrive, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cong... |
OMIM:302060 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Abno... |
OMIM:222748 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Hypertonia, Hyperkinetic movement... |
OMIM:236270 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Blindness, Abnormal ... |
ORPHA:3208 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Posteriorly rotated ears, Hypertelori... |
OMIM:618829 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph... |
ORPHA:98911 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Sacral dimple, Short stature, Highly arched eyebrow, Hypertelorism, Dyspnea... |
ORPHA:261279 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b... |
OMIM:252940 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Myopia, Iridodonesis, Short stature, Hypertelorism, Kyphosis, Sensorineural hearing i... |
ORPHA:2479 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Respiratory distress, Bicuspid aortic valve, Large for gestational age, Cardiomegaly,... |
ORPHA:363705 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Blindness, Polyuria, Diarrhea, Osteoporosis, Rickets, Mottled pigmentation of photo... |
OMIM:560000 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Blindness, Optic atrophy, Osteoporosis |
ORPHA:2787 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormality of the kidney, Generalized ... |
ORPHA:93399 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Neph... |
ORPHA:534 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Abnormal form of the vertebral bodies, Protruding ear, Gastroesophageal reflux... |
ORPHA:2462 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Myopia, Hypopigmentation of hair, Short stature, Abnormal retinal morphology, Albinism, Kyphosis,... |
ORPHA:2786 |
15Q13.3 Microdeletion Syndrome |
|
Short stature, Melanocytic nevus, Protruding ear, Attention deficit hyperactivity disorder, Macrotia |
ORPHA:199318 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Inguinal hernia, Decreased muscle mass, Hypertelorism, Pectus excavatum, Protruding e... |
OMIM:612940 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Inguinal hernia, Retinal detachment, Rhizomelia, Myopia, C... |
OMIM:156550 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Retinal detachment, Short stature, Corneal opacity, Moderately reduced ... |
ORPHA:2788 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Delayed CNS myelination, Blindness, Hypertelorism, Protruding ear, Scolio... |
OMIM:618731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Bilateral cryptorchidism, Pr... |
OMIM:300998 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Decreased number of large peripheral myelinat... |
OMIM:271245 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, General... |
ORPHA:2088 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Diabetes mellitus, S... |
ORPHA:3163 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated circulating cre... |
OMIM:611615 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... |
ORPHA:98863 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Developmental cataract, Cortical thickening of long bone diaphyses, Hyp... |
ORPHA:93325 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypotens... |
ORPHA:428 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ragged-red muscle fibers, Hyperventilation, Hepatomegaly, Episodic respiratory distress, D... |
ORPHA:255210 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Fatty rep... |
OMIM:610687 |
Central Core Disease |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm... |
ORPHA:597 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Frequent falls, Elevated circulating creatine ki... |
ORPHA:353 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Corneal opacity, Cerebral dysmyelination, Optic atrophy, Photophobia, Hyperga... |
OMIM:252650 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98853 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Delayed CNS myelination, Impulsivity, Sensorineural hearing impairment, Delayed myelination, Prot... |
OMIM:617854 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Short neck, Delayed epiphyseal ossification, Degenerative vitr... |
ORPHA:485 |
Alagille Syndrome |
|
Corneal dystrophy, Abnormal pupil morphology, Abnormal form of the vertebral bodies, Protruding e... |
ORPHA:52 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Am... |
OMIM:616026 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Ventricular tachycardia, Upper limb mus... |
ORPHA:263297 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highl... |
OMIM:619451 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, ... |
ORPHA:408 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Alopecia, Congestive heart failure, Diarrhea, Myocardi... |
ORPHA:31824 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Cataract, Hypospadias, Kyphosis, Cryptorchidism, Hypopigmented skin... |
ORPHA:2115 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Paraspinal muscle hypertr... |
OMIM:602484 |
Phelan-Mcdermid Syndrome |
|
Cerebral visual impairment, Hypoplastic toenails, Episodic vomiting, Protruding ear, Deeply set e... |
OMIM:606232 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Deepl... |
ORPHA:268261 |
Methanol Poisoning |
|
Blindness, Myocardial infarction, Cerebral hemorrhage, Diarrhea, Permanent atrial fibrillation, I... |
ORPHA:31825 |
Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia, Joint stiffness, Optic atrophy, Gastroesophageal reflux, Vo... |
ORPHA:314911 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Cerebral visual impairment, Synophrys, Optic atrophy, Protruding ear, Thick eyebrow |
OMIM:618737 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... |
ORPHA:280234 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Incontinentia Pigmenti |
|
Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifida occult... |
ORPHA:464 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus |
OMIM:619028 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Myopia, Cataract, Cachexia, Joint stiffness, Abnormality of th... |
ORPHA:2047 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Decreased activity of mitochond... |
OMIM:615084 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Short stature, Craniosynostosis, Myopathy, Phosphoethanolaminuria, ... |
OMIM:241510 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Blindness, Diabetes mellitus, Hypoglycemia, Hepatomegaly, Optic neuropathy, Se... |
ORPHA:2609 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Cataract, Aggressiv... |
ORPHA:75858 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy, Visual impairment |
ORPHA:1490 |
Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus |
ORPHA:1935 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Conductive hearin... |
ORPHA:2316 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Protruding ear, Abnormal bone ossification, Small earlo... |
ORPHA:93315 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle w... |
ORPHA:466768 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ... |
ORPHA:97292 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas... |
ORPHA:681 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Blindness, Corneal opacity |
ORPHA:46486 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Myopia, Cataract, Visual loss, Osteoarthritis, Sensorineural hearing impairme... |
ORPHA:90653 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... |
OMIM:611228 |
Retinopathy Of Prematurity |
|
Blindness, Small for gestational age, Retinal arteriolar tortuosity, Abnormal retinal vascular mo... |
ORPHA:90050 |
Dubowitz Syndrome |
|
Hypoplastic toenails, Low anterior hairline, Protruding ear, Abnormality of skin pigmentation, Sp... |
ORPHA:235 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal... |
ORPHA:769 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b... |
ORPHA:324 |
Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva... |
OMIM:607855 |
Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Lower limb muscle weakness, Hearing impairment |
OMIM:302700 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Short stature, Short neck, Hyperlordosis, Kyp... |
OMIM:314580 |
16Q24.3 Microdeletion Syndrome |
|
Myopia, Ventricular septal defect, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched e... |
ORPHA:261250 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Generalized joint laxity, Deeply set eye, Sparse hair, Emphyse... |
ORPHA:2962 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypotelorism, Deeply set eye, Hypoplasia... |
ORPHA:649 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Limited hip extension, Urinary incontinence... |
OMIM:617114 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Myopia, Short stature, Cryptorchidism, Hypermetropia, Protruding ear, Gastroesophageal reflux, Jo... |
OMIM:619595 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Protruding ear, Hypogonadism, Scoliosis, Macrotia |
OMIM:251240 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Inguinal hernia, Facial hypotonia, Hypertelorism, Cerebral atrophy, Protruding ear,... |
OMIM:615539 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Generalized w... |
ORPHA:353327 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Intrau... |
ORPHA:525731 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Low anterior hairline, Abnormal form of the vertebral bodies, Hernia, Cough, Ch... |
ORPHA:579 |
Mosaic Trisomy 8 |
|
Short neck, Protruding ear, Deeply set eye, Vertebral segmentation defect, Vesicoureteral reflux,... |
ORPHA:96061 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... |
OMIM:213600 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Hypospadias, Posteriorly rotated ears, Supernumerary nipple, Hypertelorism, Sensorineur... |
ORPHA:3224 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, H... |
ORPHA:1473 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Hypermela... |
OMIM:617730 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Respiratory failure requiring assisted ventilation, Craniosynostosis, Uplifted earl... |
ORPHA:412069 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney ... |
OMIM:615993 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Short... |
ORPHA:912 |
Gapo Syndrome |
|
Protruding ear, Photophobia, Sparse hair, Megalocornea, Tubulointerstitial fibrosis, Keratoconus,... |
OMIM:230740 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Polydipsia, Cataract, Obesity, Trun... |
OMIM:615986 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Frontotempora... |
OMIM:263210 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Myopia, Delayed CNS myelination, Posteriorly rotated ears, Short stature, Cor... |
OMIM:617763 |
Williams Syndrome |
|
Osteopenia, Abnormal form of the vertebral bodies, Protruding ear, Nephrocalcinosis, Short statur... |
ORPHA:904 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Elevated diastolic bloo... |
ORPHA:275555 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cerebellar atrophy, Blindness, Cataract, Short stature, Hepatomegaly, Senso... |
ORPHA:254913 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Failure to thrive, Hyperammonemia |
OMIM:237310 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Short stature, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment |
OMIM:302905 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Alopecia, Proptosis, Li... |
OMIM:248370 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Neonatal epiphyseal stippling, Blue irides, Epiphyseal stippling, Hype... |
OMIM:101800 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Small for gestational age, Synophrys, Protruding ear, Broad eyebrow |
OMIM:618302 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis... |
ORPHA:2645 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Blindness, Retinitis pigmentosa inversa |
OMIM:268010 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Gastr... |
ORPHA:298 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Failure to thrive, Scapular winging, Hyperlordosis, Hypertelorism, Ragged-red muscl... |
OMIM:600462 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoli... |
OMIM:616394 |
Kabuki Syndrome 2 |
|
Joint laxity, Atrial septal defect, Short stature, Highly arched eyebrow, Neonatal hypoglycemia, ... |
OMIM:300867 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Conductive hearing impairm... |
ORPHA:580 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E... |
OMIM:609452 |
H Syndrome |
|
Corneal arcus, Hernia, Micropenis, Alopecia, Short stature, Abnormality of the kidney, Bronchiect... |
ORPHA:168569 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi... |
ORPHA:486815 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Skeletal muscle atrophy, Posteriorly rotated ears, Chori... |
ORPHA:899 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Cerebral palsy, Acute hyperammonemia, Hyperammonemia, Opisthot... |
OMIM:210210 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb... |
OMIM:614008 |
Ck Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Hyperlordosis, Aggressive behavior, Kyphosis, Scoliosis,... |
OMIM:300831 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... |
OMIM:264700 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Corneal opacity, Congenital diaphragmatic hernia, Crani... |
ORPHA:2409 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Abnormality of vision, Deeply set eye, G... |
ORPHA:90289 |
King-Denborough Syndrome |
|
Muscle fiber atrophy, Lumbar hyperlordosis, Short stature, Ventricular septal defect, Kyphoscolio... |
OMIM:619542 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Short stature, Hypogonadotropic hypogonadism, Hyperl... |
ORPHA:1387 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal eyelash morphology, Optic atrophy, P... |
ORPHA:2518 |
Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Generalized amyotrophy |
OMIM:610006 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Intrauterine growth retardation, Myopia, Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Reduced visual acuity... |
OMIM:608703 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Blindness, Visual loss, Sensorineur... |
OMIM:601338 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... |
OMIM:300580 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Fatty replacement of skeletal mu... |
OMIM:620249 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Microcornea, Renal neoplasm, Myopi... |
ORPHA:536467 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy, Ataxia, Dystonia |
OMIM:246900 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Hyperactivity, Blindness, Impulsivity, Flexion ... |
ORPHA:35069 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Apnea, Bilateral cryptorchi... |
OMIM:602535 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Microcornea, ... |
OMIM:255800 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, ... |
OMIM:278800 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency, Finger joint hypermobility |
OMIM:615225 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Short neck, Oligosacchariduria, Cortical thickening of long bone diaphyses, Subcortic... |
ORPHA:309282 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Slow-growing h... |
OMIM:190350 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Corneal opacity, Splenomegaly, Cerebral atrophy,... |
OMIM:272200 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal iron deposi... |
OMIM:255125 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Mucopolysaccharidosis, Type Ii |
|
Short neck, Flexion contracture, Papilledema, Hepatomegaly, Short stature, Hepatosplenomegaly, Um... |
OMIM:309900 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Decreased activity of mitochondrial c... |
ORPHA:478029 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Myopathy, Progressive cerebellar ataxia, Dysdiadochok... |
ORPHA:254881 |
Xfe Progeroid Syndrome |
|
Attenuation of retinal blood vessels, Renal insufficiency, Severe short stature, Proteinuria, Bli... |
OMIM:610965 |
Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum atrial septal... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Flexion contracture, Protruding ear, Hypotelorism, Deeply set eye, Micro... |
OMIM:309590 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se... |
ORPHA:536471 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Atrial septal defect, Cataract, Short stature, Ventricular s... |
ORPHA:290 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Generalized hyperpigmentation,... |
ORPHA:3452 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, Hypotelorism, Deeply set eye, Gastroesophageal ... |
OMIM:619325 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Sc... |
ORPHA:26791 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Action tremor |
OMIM:606438 |
Bohring-Opitz Syndrome |
|
Apnea, Cardiomegaly, Synophrys, Congenital contracture, Vomiting, Low-set, posteriorly rotated ea... |
ORPHA:97297 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower l... |
OMIM:607088 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Gastroeso... |
ORPHA:444077 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Short stature, Short neck, Pectus excavatum, Hypertelorism, Protruding ear, Abnormal he... |
OMIM:618571 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Cerebral visual impairment, Hypertelorism, Optic atrophy, CNS hypomyelination,... |
OMIM:618437 |
Cohen Syndrome |
|
Myopia, Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Joint hypermobility,... |
OMIM:216550 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Increased ... |
OMIM:613752 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin,... |
ORPHA:100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf muscle hype... |
OMIM:613157 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Thenar muscle atrophy, Moderately short stature, Flexion contracture, Platyspondyly, ... |
ORPHA:157965 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn... |
OMIM:600363 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Pectus excavatum, Hearing abnormality, Protruding ear, Radioulnar s... |
ORPHA:3270 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Wolfram Syndrome |
|
Male hypogonadism, Nephropathy, Abnormal mesentery morphology, Respiratory insufficiency, Cardiom... |
ORPHA:3463 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Low anterior hairline, Aortic... |
OMIM:220111 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism, Camptodactyly of finger, Pectus excavatum, Protruding ear, ... |
ORPHA:776 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy, Visual impairment |
ORPHA:3177 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... |
OMIM:617072 |
Developmental And Epileptic Encephalopathy 48 |
|
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Proptosis, Long eyelashes, Rod-cone dyst... |
OMIM:617276 |
Jansen-De Vries Syndrome |
|
Posteriorly rotated ears, Short stature, Bicuspid aortic valve, Hyperlordosis, Ventricular septal... |
OMIM:617450 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Myopathy, Reduced muscle carn... |
OMIM:212140 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Short neck, Synophrys, Renal cyst, Microcornea, ... |
OMIM:122470 |
Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Palmoplantar hyperkeratosis, Hypo... |
OMIM:601812 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Protruding ear |
OMIM:278200 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Renal insufficiency, Failure to thrive, Constriction of peripheral visual field, Cr... |
OMIM:613861 |
Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Generalized aminoacidur... |
OMIM:227810 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Scotoma, Visual loss, Sensorineural hearing impairme... |
ORPHA:231169 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Decreas... |
OMIM:252010 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Telangiectasia of the skin, Short stature, Congenital diaphragmatic hernia, R... |
ORPHA:438134 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Hyperhidrosis, Vertebral segmentation defect, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Protruding ear, Hyperhidrosis, Vertebral segmentation defect, ... |
ORPHA:352665 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Blindness, Hypoplastic fingernail, Renal agene... |
OMIM:220500 |
Rodrigues Blindness |
|
Blindness, Short stature, Sclerocornea, Nasal flaring, Protruding ear, Fine hair, Microcornea, Sp... |
OMIM:268320 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnor... |
ORPHA:101082 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Short stature,... |
OMIM:619234 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Myopia, Neonatal respiratory distress, Severe short stature, Short neck, Hyperlordo... |
OMIM:251450 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypertension, Aminoaciduria, Glycosuria, Hypophosphatemic rickets |
OMIM:618913 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Myopia, Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, As... |
OMIM:615761 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Hyperphenylalaninemia, Tremor, Rigidity, Bradyki... |
OMIM:261640 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Short neck, Low anterior hairline, Microcornea, Wrist flexion con... |
ORPHA:800 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hypopigmentation of the skin, Lumbar hyperlordosis, Diabetes mellitus, L... |
OMIM:615980 |
Monosomy 18P |
|
Alopecia, Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Protruding ear, Low poster... |
ORPHA:1598 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Kid Syndrome |
|
Keratitis, Scarring alopecia of scalp, Corneal erosion, Knee flexion contracture, Arthritis, Kera... |
ORPHA:477 |
Hemochromatosis, Type 2A |
|
Azoospermia, Increased serum iron, Increased circulating ferritin concentration, Lethargy |
OMIM:602390 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Optic disc pallor, Peripheral axonal neuropath... |
OMIM:618580 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Corneal opacity, Cardiomegaly, Kyphosis, Hypoth... |
ORPHA:349 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Supernumerary nipple, Aggressive behavior, Sparse eyebrow, Hypertelorism, Synophrys... |
OMIM:620098 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Generalized aminoaciduria, Glycosuria, Hy... |
OMIM:613388 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... |
OMIM:255200 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, Fasciculatio... |
OMIM:313200 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Adrenoleukodystrophy |
|
Alopecia, Blindness, Urinary incontinence, Bowel incontinence, Visual loss, Primary adrenal insuf... |
OMIM:300100 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Transient hyperlipidemia, Lethargy, Hemiplegia/hemiparesis |
ORPHA:156 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Atrial septal defect, Ventricular septal defect, Aggressive behavior, Pectus excava... |
OMIM:301039 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Hypoglycosylation of alp... |
ORPHA:370959 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis |
ORPHA:99879 |
Lateral Meningocele Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Conductive hearing impairment, Iris coloboma, ... |
ORPHA:2789 |
Dent Disease 2 |
|
Umbilical hernia, Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphat... |
OMIM:300555 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood u... |
OMIM:617872 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Hypospadias, Ankle flexion contracture, Cryptorchidism, Sensorineural hearing impairment, Knee fl... |
ORPHA:435938 |
Frontoocular Syndrome |
|
Myopia, Posteriorly rotated ears, Pectus excavatum, Hypotelorism, Proptosis, Pulmonic stenosis, L... |
OMIM:605321 |
Leprechaunism |
|
Skeletal muscle atrophy, Protruding ear, Nephrocalcinosis, Recurrent infantile hypoglycemia, Incr... |
ORPHA:508 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypospadias, Optic nerve hypoplasia, Posteriorly rotated ears, Cere... |
OMIM:618156 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Neonatal respiratory distress, Corneal opacity, Hypertelorism, Increased intervertebral space, Th... |
OMIM:618961 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Abnormal sacrum morphology, Optic atrophy, Respiratory insufficiency, Abnormal for... |
ORPHA:93262 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Respi... |
ORPHA:2655 |
Classic Galactosemia |
|
Speech apraxia, Incoordination, Ataxia, Postural tremor, Cryptorchidism, Depression, Clumsiness, ... |
ORPHA:79239 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Centrally nu... |
OMIM:248800 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Inguinal hernia, Short stature, Ventricular septal defect, Unilateral renal... |
OMIM:608572 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Proptosis, Tetralogy of Fallot, Cryptorchidism |
ORPHA:3303 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Hypotelorism, Multiple lipomas, Aniso... |
OMIM:181270 |
Say-Barber-Miller Syndrome |
|
Knee flexion contracture, Protruding ear, Macular degeneration, Deeply set eye, Low-set, posterio... |
ORPHA:3132 |
Caffey Disease |
|
Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo... |
ORPHA:1310 |
Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Bradykinesia, Chor... |
OMIM:606159 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Cataract, Chorioretinal degeneration,... |
ORPHA:414 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Short stature, Impulsivity, Aggressive behavior, Hypertelorism, Cryptorchidism, Hypot... |
OMIM:619435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Low anterior hairline, Respiratory insuffi... |
OMIM:613153 |
Creatine Phosphokinase, Elevated Serum |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I... |
OMIM:123320 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature, F... |
OMIM:201470 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Palmoplantar hyperkeratosis |
ORPHA:2386 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Sclerocornea, Abnormal form of the vertebral bodies, Hernia, Chr... |
ORPHA:280 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Increased body weight |
ORPHA:276608 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Mixed hearing impairment, Aortic regurgitation, Cerebellar atrophy... |
ORPHA:309288 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Hypopigmentation of the skin, Small for... |
OMIM:210900 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Myopia, Abnormal retinal ... |
ORPHA:1390 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Joint laxity, Aortic regurgitation, Corneal opacity, Unilateral renal... |
OMIM:616603 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Decreased activity of... |
OMIM:614924 |
Zttk Syndrome |
|
Cerebral visual impairment, Flexion contracture, Hemivertebrae, Protruding ear, Deeply set eye, A... |
OMIM:617140 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Cataract, Cardiomegaly, Vertigo, Recurrent pneumonia, Oligosacchariduria, Constipation... |
ORPHA:3137 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Clonus, Elevated circulating creatine kinase concentration, Flexion contracture, Muscle fiber atr... |
OMIM:620240 |
Alg9-Cdg |
|
Short neck, Large fleshy ears, Right ventricular dilatation, Vomiting, Gastroesophageal reflux, A... |
ORPHA:79328 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Atrial septal defect, Abnormal dental enamel morphology, Obesity, Multiple suture c... |
ORPHA:567 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Decreased response to growth hormone stimulation test, Delayed epiphyseal ossificatio... |
OMIM:616007 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Delayed CNS myelination, Rhizomelia, Short neck, Obesity... |
OMIM:618821 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Lumba... |
ORPHA:435387 |
Donnai-Barrow Syndrome |
|
Omphalocele, Retinal detachment, Diaphragmatic eventration, Cataract, Proteinuria, Posteriorly ro... |
OMIM:222448 |
Developmental And Epileptic Encephalopathy 41 |
|
Babinski sign, Flexion contracture, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hyperalaninemia, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid dro... |
OMIM:617228 |
Infantile Refsum Disease |
|
Hepatomegaly, Constriction of peripheral visual field, Short stature, Facial palsy, Cataract, Rod... |
ORPHA:772 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... |
OMIM:617519 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Myopia, Alopecia, Hypopigmentation of hair, Cataract, Corneal opacity, Abnormal heart morphology,... |
ORPHA:1067 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Weaver-Williams Syndrome |
|
Protruding ear, Decreased body weight |
ORPHA:3448 |
Kleeblattschaedel |
|
Recurrent corneal erosions, Proptosis, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Blindness, Brittle hair, Short stature, Fine hair, Melanocytic nevus, Macular ... |
ORPHA:1573 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy |
OMIM:613002 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Delayed CNS myelination, Sparse eyebrow, Protruding ear, Hypotelorism, Sparse hair, Woolly hair, ... |
OMIM:619691 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Developmental cataract, Dysphagia |
OMIM:607674 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Ataxia, Tremor |
ORPHA:101075 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Intellectual Developmental Disorder, X-Linked 45 |
|
Macrotia, Short stature, Protruding ear |
OMIM:300498 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Proptosis, Hypertelorism, Hearing impairment |
ORPHA:35099 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Recurrent cystitis, Hepatomegaly, Abnormal fingernail morpho... |
ORPHA:742 |
Cenani-Lenz Syndrome |
|
Cataract, Abnormal dental enamel morphology, Hearing impairment, Renal hypoplasia/aplasia, Hypert... |
ORPHA:3258 |
Ogden Syndrome |
|
Inguinal hernia, Torticollis, Ventricular septal defect, Postnatal growth retardation, Cryptorchi... |
ORPHA:276432 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Recurrent urinary tract infections, Optic nerve hypopl... |
ORPHA:221139 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr... |
ORPHA:79263 |
Anauxetic Dysplasia 2 |
|
Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, P... |
OMIM:617396 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... |
OMIM:277440 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Blindness, Corneal dystrophy, Pulmonary embolism... |
ORPHA:3205 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... |
OMIM:618093 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure t... |
OMIM:237300 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Cataract, Short stature, Hypoplasia of the odontoid process, Pl... |
ORPHA:85172 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2322 |
Pycnodysostosis |
|
Ridged nail, Decreased response to growth hormone stimulation test, Generalized osteosclerosis, A... |
ORPHA:763 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Dysphagia, Weight loss, Increased susceptibility to fractures, Pigm... |
ORPHA:216866 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Posteriorly rotated ears... |
ORPHA:1427 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... |
ORPHA:358 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of the liver, Corneal opacity, Hepatomegaly |
ORPHA:1980 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Short stature, Corneal opacity, ... |
ORPHA:1867 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
Hyperostosis Cranialis Interna |
|
Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Redu... |
OMIM:144755 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Urinary incontinence, Bowel incontinence, Corpus callosum atrophy, Kyphosis, ... |
ORPHA:171629 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Pectus excavatum, Advanced ossification ... |
OMIM:615349 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, Protruding e... |
OMIM:249420 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Hypertelorism, Hearing abnormality, Abnormality of the pa... |
ORPHA:1555 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Fasciculations |
ORPHA:65684 |
Ethylene Glycol Poisoning |
|
Tachypnea, Vomiting, Nausea, Facial palsy, Episodic respiratory distress, Renal tubular dysfuncti... |
ORPHA:31826 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Congestive heart failure, Quadriceps muscle weakness, D... |
ORPHA:206546 |
Fumarase Deficiency |
|
Failure to thrive, Mitochondrial swelling, Hyperbilirubinemia |
OMIM:606812 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Abnormality of... |
ORPHA:93400 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystrophy, Nail dystrophy, Increase... |
OMIM:226670 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Pseudobulbar par... |
OMIM:169500 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Overriding aorta, Cyanosis, Hypertelorism, Cryptorchidism, Tetralogy of Fal... |
ORPHA:3304 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Choreoathetosis, Dystonia, Lethargy, Failure to thrive |
ORPHA:79312 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Blindness, Small for gestational age, Ventricular septal defect, F... |
ORPHA:79243 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Tortuosity of conjunct... |
OMIM:230000 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Deeply set eye, V... |
OMIM:615485 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ... |
ORPHA:314632 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Short stature, Kyphoscoliosis, Hyperlordosis, Hearing impairmen... |
OMIM:618363 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Restless legs,... |
ORPHA:101085 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Aggressive behavior, Hypertelorism, Synophrys, Obesity, Fine hair, Microtia, Gastroes... |
OMIM:620250 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Short stature, Constriction of peripheral visual field, Cataract, Cry... |
OMIM:300578 |
Typical Nemaline Myopathy |
|
Facial palsy, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Pectus e... |
ORPHA:171436 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Atr... |
OMIM:245600 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatomegaly, Decreased muscle mass, Hypertelorism, Postnatal growth retardation, Dysphagia, Abno... |
ORPHA:73230 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,... |
OMIM:614186 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral visual impairment, Ragged-red muscle fibers... |
OMIM:616239 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Advanced ossification... |
OMIM:614613 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Camptodactyly of finger, Short statu... |
ORPHA:568 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Tongue thrusting, Vomiting, Atrophy... |
ORPHA:77299 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormal... |
ORPHA:79230 |
Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Humeroradial synostosis, Proptosis, Metatarsal synostosis, Meta... |
OMIM:612961 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis le... |
OMIM:256810 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Reduced bone mineral density, Jo... |
ORPHA:1185 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Corn... |
OMIM:607015 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Protruding ear, Abnormality of vision, Abnormal optic nerve morphology, ... |
ORPHA:2526 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Photophobia, Di... |
OMIM:256850 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... |
ORPHA:466650 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Hyperteloris... |
OMIM:252160 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Anorexia, Craniofacial osteosclerosis, Cortical thickening of long bone ... |
ORPHA:1328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Curly hair, Atrial septal defect, Short stature, Hyperlordosis, Aggressive behavior... |
OMIM:300986 |
Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairli... |
OMIM:619488 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Paraplegia, Hyperammonemia, Let... |
ORPHA:927 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Increased bone mineral density, Cra... |
OMIM:131300 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Sh... |
ORPHA:2135 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Elevated circulating creati... |
OMIM:617013 |
Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Aminoaciduria, Hypoplasia of the thymus, Abnormality of the mitochondrion, Intrahepatic bi... |
OMIM:214110 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Myopia, Short stature, Short neck, Postnatal growth retardation, Hypertelorism, Optic atrophy, Re... |
OMIM:614800 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:95717 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, Protruding ear, Microcornea, Atrial septal defect, Abnormal anterior ch... |
OMIM:601776 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Abnormal vestibular function, Drusen, Nyctalopia, Prelingual sensorineural hea... |
OMIM:618632 |
Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Diabetes mellitus, Hydroureter, Sensorineural hearing impairment, Optic atrophy, Abnor... |
OMIM:598500 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Short neck, Hypertelorism, Cryptorchidism, Sensorineural hearing impairme... |
OMIM:614230 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Delayed CNS myelination, Hypertelorism, Muscular ventricular septal defect, Self... |
OMIM:618354 |
Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn... |
ORPHA:3253 |
Zygomycosis |
|
Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Colitis, Vom... |
ORPHA:73263 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Retinal degeneration, Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Abno... |
ORPHA:166035 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Ba... |
OMIM:300055 |
Muenke Syndrome |
|
Amblyopia, Hypertelorism, Capitate-hamate fusion, Sensorineural hearing impairment, Low anterior ... |
OMIM:602849 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Dystonia, Lethargy, Spa... |
ORPHA:765 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Cor pulmonale, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corne... |
OMIM:158310 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Hypertelorism, Optic atrophy, Increased susceptibility to fractures, Reduced bo... |
ORPHA:561 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Rhabdomyolysis, Babinski sign, Skeletal myopathy, Hypocalcemia, Lef... |
ORPHA:746 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Blindness... |
OMIM:259700 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Develo... |
OMIM:618815 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Abnormal circulating creatine kinase concentration, Type 1 muscle... |
OMIM:617336 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Chorioretinal hypopigmentatio... |
ORPHA:398069 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Flexion contracture, Optic atrophy, Gastroesophag... |
ORPHA:141 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Knee flexion contracture, Hypotelorism, Microphallus, Pelvic kidney,... |
ORPHA:468631 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy, Hyperlysinemia, Hyperammonemia |
OMIM:238750 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... |
OMIM:618524 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Branchial Arch Syndrome, X-Linked |
|
Short stature, Cryptorchidism, Protruding ear, Pulmonic stenosis, Low-set ears, Hearing impairment |
OMIM:301950 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Delayed CNS myelination, Sacral dimple, Hypospadias, Small for... |
ORPHA:261311 |
Autosomal Dominant Primary Microcephaly |
|
Short stature, Protruding ear |
ORPHA:2514 |
Three M Syndrome 1 |
|
Neonatal respiratory distress, Scapular winging, Hypospadias, Small for gestational age, Joint hy... |
OMIM:273750 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia |
OMIM:612736 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Nausea, Heart block, Diarrhea, Tachypnea, Capillary leak, Hypoxemia, Respiratory fai... |
ORPHA:542323 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Sparse scalp hair, Optic nerve hypoplasia, Postnatal growth retardation, F... |
OMIM:620029 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Hypertelorism, Abnormal pupil morpholo... |
ORPHA:236 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Cerebral visual impairment, Anteverted ears, Secundum atrial septal defect,... |
OMIM:616268 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia,... |
OMIM:613406 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Recurrent urinary tract infections, Reduced visual acuity, Joint hyperflexibility, Chronic consti... |
OMIM:618707 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebral visual impairment, Gastroesophageal reflux, Chorioretinal coloboma, Vesicoureteral reflu... |
ORPHA:494344 |
Hypotonia-Cystinuria Syndrome |
|
Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimulation test, Hy... |
OMIM:606407 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
Albers-Schönberg Osteopetrosis |
|
Blindness, Osteomyelitis, Short stature, Recurrent fractures, Facial palsy, Mandibular osteomyeli... |
ORPHA:53 |
Propionic Acidemia |
|
Hyperammonemia, Hyperglycinemia, Dystonia, Lethargy, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Weiss-Kruszka Syndrome |
|
Hypoplastic fingernail, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, ... |
OMIM:618619 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Maternal diabe... |
ORPHA:3157 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Anterior beaking of lumbar vertebrae, Chondroitin sulfate excretion in urine, Joint l... |
OMIM:253000 |
Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Joint laxity, Hepatomegaly, Hyperlordosis, Hypoplasia of ... |
OMIM:253010 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Cerebral visual impairment, Hemivertebrae, Protruding ear, Deeply set eye, Gastroesophageal reflu... |
ORPHA:500150 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Truncal obesity, Micropenis, Chil... |
OMIM:610156 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Short stature, Hearing abnormali... |
ORPHA:2031 |
Three M Syndrome 3 |
|
Small for gestational age, Short stature, Short neck, Hyperlordosis, Increased vertebral height, ... |
OMIM:614205 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ... |
OMIM:609308 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Ragg... |
OMIM:616479 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Metatarsal osteolysis, Camptodactyly of toe, ... |
OMIM:259600 |
Alexander Disease |
|
Osteopenia, Short neck, Hyperhidrosis, Hypothyroidism, Facial palsy, Sudden cardiac death, Hyperl... |
ORPHA:58 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretina... |
OMIM:618733 |
Tetralogy Of Fallot |
|
Proptosis, Tetralogy of Fallot |
OMIM:187500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Delayed CNS myelination, Recurrent urinary tract infections, Short stature, Ventric... |
OMIM:620210 |
Distal Duplication 17Q |
|
Joint laxity, Low-set, posteriorly rotated ears, Hyperactivity, Severe short stature, Short statu... |
ORPHA:3379 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, B... |
ORPHA:206436 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Lumbar hyp... |
ORPHA:1830 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Reduced forced vital capacity, Hyperlordosis, A... |
OMIM:607155 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Sparse hair, Lower limb muscle we... |
OMIM:606721 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Posteriorly rotated ea... |
ORPHA:2215 |
Sarcosinemia |
|
Peroneal muscle weakness, Optic atrophy, Pulmonic stenosis, Infantile sensorineural hearing impai... |
ORPHA:3129 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... |
ORPHA:970 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Renal agenesis, Short stature, Frontal balding, Short neck, Synophrys, Obesity, Pr... |
ORPHA:247768 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Visual loss, Upper limb mus... |
ORPHA:206448 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
Tyshchenko Syndrome |
|
Posteriorly rotated ears, Thick hair, Supernumerary nipple, Short stature, Pectus excavatum, Vent... |
OMIM:615102 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Otofaciocervical Syndrome |
|
Scapular winging, Short stature, Renal hypoplasia/aplasia, Protruding ear, Abnormal antihelix mor... |
ORPHA:2792 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Short stature, Hypertelorism, Osteolytic defects of the p... |
ORPHA:2484 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophr... |
ORPHA:3455 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy |
OMIM:274400 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia,... |
OMIM:615924 |
Stickler Syndrome, Type I |
|
Osteoarthritis, Conductive hearing impairment, Myopia, Scoliosis, Beaking of vertebral bodies, Re... |
OMIM:108300 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea... |
OMIM:255160 |
Neurofibromatosis Type 1 |
|
Abnormality of vision, Multiple lipomas, Pheochromocytoma, Chorioretinal coloboma, Heterochromia ... |
ORPHA:636 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Choroideremia, C... |
OMIM:303110 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Short neck, Synop... |
ORPHA:488632 |
Hurler Syndrome |
|
Short neck, Abnormality of skin pigmentation, Hernia, Endocardial fibroelastosis, Abnormal nerve ... |
ORPHA:93473 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Renal cyst, Shallow orbits, Hepatoblastoma, Micropenis, Streak ... |
ORPHA:798 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Ataxia, Tremor, Decreased serum zinc, Lethargy, Alopecia of scalp, Decreased t... |
OMIM:201100 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Increased bone mineral density, Hepatomegaly, Short stature, Facial palsy, Myd... |
OMIM:259720 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type |
|
Joint contracture of the 5th finger, Protruding ear |
OMIM:300799 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Dyspnea, Patent foramen ovale, Myopathy, Shoulder girdle muscle weakness, Generali... |
OMIM:615156 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
Senior-Loken Syndrome 4 |
|
Polyuria, Amblyopia, Stage 5 chronic kidney disease, Nephronophthisis, Severely reduced visual ac... |
OMIM:606996 |
Cartilage-Hair Hypoplasia |
|
Short neck, Heart block, Abnormal form of the vertebral bodies, Abnormal bone ossification, Spars... |
ORPHA:175 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Abnormal vestibular function, Peripheral axonal neuropath... |
ORPHA:276244 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal amyotrophy, Limb muscle weakness, F... |
OMIM:118300 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Torticollis, Short stature, Reduced visual acuity, Cerebral atrophy, Distal a... |
ORPHA:397946 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypoglycemia, Diarrhea, Tachypnea, Deeply set eye, H... |
ORPHA:173 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Chorioretinal dysplasia, Congenital diaphragmatic hernia, Sclerocornea, Epi... |
ORPHA:2556 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Upper limb muscle weakness, Limb fasc... |
ORPHA:90117 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Short stature, Hyperlordosis, Sparse eyebrow, Leukonyc... |
ORPHA:77258 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Prelingual sensorineural hearing impairment, Myopia, Hyperactivity, Short ... |
ORPHA:73272 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Cataract, Short stature, Hypertelorism, Kyphosis, Sensorineural hearing impairment, Ma... |
ORPHA:79107 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Hypoplastic toenails, Synophrys, Low anterior hairline, Vertebral segmentation defect... |
ORPHA:251014 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Abnormal pupil morphology, Hyperhidrosis, Gastroesophageal reflux... |
ORPHA:1764 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Congestive heart failure, Decreased activity of mitochondrial complex I... |
ORPHA:70472 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Skeletal muscle atrophy, Ataxia |
ORPHA:101078 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Blindness, Short stature, Retinal telangiectasia, Postnatal growth retardation, Osteo... |
OMIM:612199 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Short stature, Corneal opacity, Intrahepatic chole... |
ORPHA:333 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Hypomethioninemia, Ataxia, Hyperhomocystinemia, Hemiparesis, Cystathionine... |
ORPHA:395 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Increased circulating ferritin concentration, Elevated transferrin saturat... |
ORPHA:465508 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Abnormality of the kidney, Kyphosis, Limitation of joint mobility, Respiratory ins... |
ORPHA:93274 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Thoracic kyphosis, Conjunctivitis, Hernia,... |
ORPHA:505248 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
3M Syndrome |
|
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Short stature, Short neck, Hype... |
ORPHA:2616 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormality of... |
ORPHA:2522 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Arthritis, Hypertension, Elevated circulating creatinine concentration, Synovitis |
ORPHA:567544 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Hyperlordosis, Disproportionate short stature, Scoliosis, Reduced bone mineral density |
ORPHA:2501 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Growth delay, Proptosis, Gen... |
OMIM:605013 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Posteriorly rotated ears, Short neck, Anisospondyly, Cryptorchidism, Flexio... |
ORPHA:1865 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal... |
ORPHA:217085 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Antalgic gait, Diabetes mellitus, Osteomalacia, Hypercalcemia, Fibrous dysplasi... |
ORPHA:249 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Blindness, Optic nerve hypoplasia, Cerebral visual impairment, Hypertelorism, De... |
OMIM:615574 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Short neck, Kyphoscoliosis, Cerebral visual impairment, Synophrys, Delayed... |
OMIM:615803 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Flexion contracture, Oligosacchariduria, Lower limb muscle we... |
ORPHA:365 |
Usher Syndrome |
|
Abnormal vestibular function, Abnormality of retinal pigmentation, Myopia, Blindness, Abnormal de... |
ORPHA:886 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Small for gestational age, Short stature, Congenital diaphrag... |
OMIM:616777 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Decreased response to growth hormone stimulation test, Micrope... |
OMIM:176270 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Albinism, Photophobia, Hypopigmentation of the fundus, Hypopigmentation... |
OMIM:606952 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... |
ORPHA:57 |
Usher Syndrome Type 3 |
|
Cataract, Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea mo... |
ORPHA:231183 |
Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Dyspnea, Kyphosis, Elevated circulating t... |
OMIM:620185 |
Ck Syndrome |
|
Hyperactivity, Lumbar hyperlordosis, Posteriorly rotated ears, Kyphoscoliosis, Aggressive behavio... |
ORPHA:251383 |
Saethre-Chotzen Syndrome |
|
Low anterior hairline, Abnormal form of the vertebral bodies, Hypotelorism, Conductive hearing im... |
ORPHA:794 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Meningioma |
|
Back pain, Bitemporal hemianopia, Decreased circulating cortisol level, Urinary incontinence, Red... |
ORPHA:2495 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... |
OMIM:607250 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Blindness, Cherry red spot of the macula, Hepatosplenomegaly, Hypoplast... |
ORPHA:79255 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Visual los... |
ORPHA:98964 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Delayed CNS myelination, Short statur... |
OMIM:618541 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita, Increased endomysial con... |
ORPHA:178148 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Weight loss, ... |
OMIM:137440 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Short stature, Insulin resistance, Ventricular septal hypert... |
OMIM:619322 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Decreased activity of mitochondrial complex I, Lethargy |
OMIM:618232 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Blindness, Apnea, Retinal dystrophy, High... |
ORPHA:2318 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... |
ORPHA:258 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impairment, Abnormal... |
ORPHA:217093 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Flexion contracture, Periorificial hype... |
OMIM:614594 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polydipsia, Polyuria, Macular a... |
OMIM:615994 |
X Small Rings |
|
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Short neck, Hypertelorism, Fetal ... |
ORPHA:96201 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Visual loss, Protruding ear, Microcornea, Visual impairment |
ORPHA:627 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Atrial septal defect, Neonatal respiratory distress, Tricuspid regurgitation, Scapu... |
OMIM:618870 |
Cinca Syndrome |
|
Hepatomegaly, Blindness, Retrobulbar optic neuritis, Sensorineural hearing impairment, Splenomega... |
ORPHA:1451 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Insulin resistance, Osteolysis, Ge... |
ORPHA:90154 |
Dubowitz Syndrome |
|
Protruding ear, Hypoplasia of the iris, Gastroesophageal reflux, Otitis media, Megalocornea, Iris... |
OMIM:223370 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Myopia, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal... |
ORPHA:90654 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Absent eyelashes, Insulin resista... |
ORPHA:90153 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... |
OMIM:614307 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... |
OMIM:619574 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia |
OMIM:222100 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Protruding ear, Hypotelorism, Atrial septal defect, Subcutaneous neurofibroma, Patent ... |
ORPHA:363700 |
Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Short stature, Ectopic kidney, Hypertelorism, Protru... |
OMIM:181510 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Cryptorchidism, Nyctalopia, Obesity, Renal cyst, Hypogonadism, Rod-con... |
OMIM:615982 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of skin pigmentation, Hypoplasia of the iris, Gastro... |
ORPHA:2092 |
Exudative Vitreoretinopathy 4 |
|
Osteopenia, Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitr... |
OMIM:601813 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Short stature, Corneal opacity, Join... |
ORPHA:585 |
X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia, Hy... |
OMIM:618049 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... |
OMIM:300009 |
Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
Sclerosteosis 1 |
|
Papilledema, Constriction of peripheral visual field, Facial palsy, Sclerotic scapulae, Hypertelo... |
OMIM:269500 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Elevated circulating creatine kinase concentration, Tremor, Proximal amyotrophy, Upper limb muscl... |
ORPHA:209335 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia |
OMIM:618637 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Hypoventilation, Neuropathic spinal arthr... |
ORPHA:99949 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... |
OMIM:271630 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Elevated circulat... |
OMIM:614857 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypertelorism, Cryptorchidism, Abnormal mesentery... |
ORPHA:2256 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Growth delay, Abnormal antihelix morphology, Macroglossia, Gastroesopha... |
ORPHA:261144 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Myopia, Abnormal pinna morphology, Short stature, Craniosynost... |
ORPHA:949 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Large for gesta... |
ORPHA:276556 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Short stature, Ventricular septal defect, Splenomegaly,... |
OMIM:615630 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Polycor... |
OMIM:175780 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Protruding ear, Hypotelorism, Tubulointerstitial nephritis, Hepatic fibros... |
OMIM:218330 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes, Bicuspid aortic valve, Cupped ear, Protruding ear, Micro... |
OMIM:616367 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short stature, Protruding ear, Scoliosis, Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Calf muscle pseudohypertrophy, Short stature, Postnatal growth retardation, D... |
ORPHA:96180 |
Central Neurocytoma |
|
Lethargy, Babinski sign, Ataxia, Depression |
ORPHA:73256 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Neurodegeneration, Motor axonal neuropathy, Compulsive behaviors, Motor tics |
OMIM:615643 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short stature, Severe short st... |
OMIM:612921 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Polydipsia, Abnormal... |
ORPHA:35687 |
Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of vision, Abnormality of skin pigmentation, Abnormalit... |
ORPHA:84 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hepatic fibrosis, Sparse hair, Intractable diarrhea, Intrauterine growth retardatio... |
OMIM:222470 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Urinary incontinence, Decreased response to growth horm... |
ORPHA:64 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Hyperammonemia, Weight loss, Lethargy |
ORPHA:79242 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Myopia, Aggressive behavior, Opt... |
ORPHA:313892 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, At... |
OMIM:123500 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Lumbar hyperlordosis, Posteriorly rotated ears, Short st... |
OMIM:619185 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary gona... |
ORPHA:436182 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Marshall Syndrome |
|
Retinal detachment, Myopia, Cataract, Sparse eyelashes, Short stature, Amblyopia, Sparse eyebrow,... |
ORPHA:560 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fund... |
OMIM:606574 |
Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating... |
ORPHA:91349 |
Cataract 11, Multiple Types |
|
Blindness, Cataract, Developmental cataract |
OMIM:610623 |
Prolidase Deficiency |
|
Hepatomegaly, Hypertelorism, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurrent pneumonia, D... |
OMIM:170100 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Blindness, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sensorineural hearing impairm... |
OMIM:148210 |
Leopard Syndrome 1 |
|
Bundle branch block, Limited elbow movement, Short neck, Protruding ear, Micropenis, Spina bifida... |
OMIM:151100 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Mixed hearing impairment, Posteriorly rotated ears, ... |
OMIM:259775 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypertelorism, Cryptorchidism, Unilambdoid synostosis, Proptosis, Long eyelashes, Scoliosis |
OMIM:618577 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Short neck, Synophrys, Flexion contracture, Deeply set ... |
OMIM:620369 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Cataract-Microcornea Syndrome |
|
Myopia, Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Small for gestational age, Elevated circulating creatine kinase ... |
ORPHA:26793 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Hepatomegaly, Abnormal chorioretinal morphology, Hyp... |
ORPHA:5 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:310300 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short neck, Synophrys, Low anterior hairline, Protruding ear, Deeply set eye, Atrial septal defec... |
OMIM:613458 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Mild postnatal growth retardation, Bicuspid aortic valve, Myocardi... |
OMIM:150230 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Elevated circulating creatine kinase concentration, Centrally n... |
OMIM:617258 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Oral-pharyngeal dysphagia, Hyperhidrosis, Hepatic fibrosis, Chondroitin sul... |
OMIM:615273 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Toe extensor amyotrophy, Pallidal degeneration, Blindness, Bull's eye maculopathy, Im... |
ORPHA:157850 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Renal salt wasting, Renal magnesi... |
ORPHA:199343 |
Ophthalmomandibulomelic Dysplasia |
|
Blindness, Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar syn... |
ORPHA:2741 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Flexion contracture, Knee flexion contracture, Reduced bone min... |
ORPHA:2614 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Nyctalopia, Rod-cone dystrophy, Attenuation of... |
OMIM:613801 |
Carpenter Syndrome 1 |
|
Short neck, Microcornea, Conductive hearing impairment, Atrial septal defect, Spina bifida occult... |
OMIM:201000 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Blindness, Decreased circulating progesterone, Optic atrophy, Primary gonadal insufficiency, CNS ... |
OMIM:603896 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circula... |
OMIM:256040 |
Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive, Abnormality of circulating enzyme level, Elevated circulating glutar... |
ORPHA:35706 |
3Mc Syndrome |
|
Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Craniosynostosis, Supernumerar... |
ORPHA:293843 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Increased C-peptide level, Large for gesta... |
ORPHA:276575 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Osteoarthritis, Atrial septal defect, Patent foramen ovale, Scapular wingi... |
OMIM:615582 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Urinary incontinence, Hypertelorism, Hair-pulling, Sy... |
ORPHA:447997 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Anterior wedging of L1, Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurg... |
OMIM:253200 |
Gitelman Syndrome |
|
Ventricular tachycardia, Vomiting, Increased circulating renin level, Renal potassium wasting, Sa... |
OMIM:263800 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
Diaminopentanuria |
|
Hyperlysinuria, Neurodegeneration, Cystinuria |
OMIM:222350 |
Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Premature graying of hair, T... |
ORPHA:902 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Posteriorly rotated ears, Hypermelanotic macule, Hyperlordosis, Horseshoe k... |
OMIM:617352 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration, Obesity, Nephronophthisis |
OMIM:614845 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Gastroesophageal reflux, Shallow orbits, Conductive hearing impairment, Joint laxity,... |
OMIM:182212 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Posteriorly rotated ears, Low anterior hairline, Hirsutism, Protruding ear, Long eyelashes, Low-s... |
OMIM:616819 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:209905 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Photophobia, Deeply set eye, Congenital ... |
ORPHA:191 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Cornea... |
ORPHA:411629 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacar... |
ORPHA:2774 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait atax... |
ORPHA:363400 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Nyctalopia, Obesity, Reduced ... |
OMIM:613464 |
Osteopetrosis, Autosomal Recessive 2 |
|
Blindness, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compressio... |
OMIM:259710 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Reduc... |
OMIM:616188 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Skeletal muscle atrophy, Cataract, Hear... |
ORPHA:773 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Facial hypotonia, Neonatal... |
ORPHA:457359 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Recurrent urinary tract infections, Short s... |
ORPHA:502 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Cataract, Hypoglycemia, Elevated circulating creatine kinase concentrati... |
OMIM:608836 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Reduced visual acuity, Photophobia, Iris trans... |
OMIM:619165 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Ectopic kidney, Synophrys, Thickened helices, Small earlobe, Hypospadias, ... |
ORPHA:3063 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... |
OMIM:156400 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Bronchiectasis, Periglomerular fib... |
OMIM:619468 |
Glaucoma 3, Primary Congenital, D |
|
Photophobia, Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Conductive hearing impairment, Sensorineural hearing impai... |
ORPHA:90354 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Deeply set eye, Elevated circulating parathyroid hormone l... |
ORPHA:97685 |
Peters-Plus Syndrome |
|
Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Short neck, Peters anomaly, H... |
OMIM:261540 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Blindness, Epistaxis, Freckles in sun-exposed area... |
OMIM:203300 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Female hypogonadism, Reduced bone mineral density, Intracr... |
ORPHA:740 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Hypoplastic right heart, Kyphosco... |
OMIM:617403 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Cataract, Osteomalacia, Hypertelorism, Abnormal eyelash morp... |
ORPHA:2671 |
Proteus Syndrome |
|
Decreased muscle mass, Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal c... |
ORPHA:744 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... |
ORPHA:71212 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy |
OMIM:615026 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Distal joint laxity, ... |
ORPHA:750 |
Abetalipoproteinemia |
|
Osteopenia, Cardiomegaly, Vomiting, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Hypopigm... |
ORPHA:14 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Myopia, Hyperactivity, Blindness, Aggressive behavior, Corpus callosum atroph... |
ORPHA:168491 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low ant... |
OMIM:180849 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insuffic... |
OMIM:310200 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest... |
ORPHA:247585 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Joint contracture of the ... |
OMIM:175700 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Polyphagia, Enuresis nocturna, Pineal cyst... |
OMIM:615873 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hyperhomocystinemia, Lower limb hypertonia, Lethargy, Failure to thrive |
ORPHA:2169 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Intracrania... |
ORPHA:447788 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Clonus, Small thenar eminence, Distal lower limb muscle weakness, Tendon ruptur... |
OMIM:620080 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinis... |
OMIM:203200 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Ataxia, Gait ataxia |
OMIM:617915 |
Renpenning Syndrome 1 |
|
Brittle hair, Protruding ear, Atrial septal defect, Sparse hair, Hypospadias, Short stature, Rena... |
OMIM:309500 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Photophobia, Hyperconvex fingernails, Subcortical cerebral atrophy, Conjunctivitis, Sparse hair, ... |
ORPHA:2273 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,... |
ORPHA:94068 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Atrial septal defect, Ocular anterior segment dysgenesis, Patent foramen ovale, Joint... |
OMIM:612582 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Heart block, Vertebral segmentation defect, Vesicoureteral reflux, Atrial sep... |
OMIM:617063 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Diabetes mellitus, Nyctalopia, Arrh... |
ORPHA:96 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, Macrovesicular... |
OMIM:619127 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of th... |
ORPHA:847 |
Pterygium Colli, Isolated |
|
Protruding ear, Low posterior hairline |
OMIM:177990 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Myopia, Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness... |
OMIM:252605 |
Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Unila... |
ORPHA:261337 |
Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Hypertelorism, Pectus excavatum, Kyphosis, Postna... |
OMIM:616294 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Urinary incontinence, Dysmyelinating leukodystrophy, Optic atrophy, Urinary u... |
OMIM:612319 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Dysphagia |
OMIM:617054 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Blindness, Decreased circulating cortisol level, Pri... |
ORPHA:139396 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:95716 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, H... |
ORPHA:281090 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Sclerocornea, Abnormal form of ... |
ORPHA:818 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Cataract, Macul... |
OMIM:180104 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory... |
OMIM:613845 |
Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Aminoaciduria, Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respir... |
OMIM:214100 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
Proximal 16P11.2 Microduplication Syndrome |
|
Bipolar affective disorder, Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Tr... |
ORPHA:370079 |
Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Horseshoe kidney, Protruding ear, Low-set ears, Failure ... |
OMIM:619959 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Anteverted ears, Protruding ear, Gastroesophageal reflux, Atrial septal defect, Myopia, Hypospadi... |
ORPHA:459070 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... |
OMIM:259050 |
Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment, Nyctalopia, Reduced visual acuity... |
OMIM:276902 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism |
OMIM:607080 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hyperammonemia, Elevated circulating creatine kinase concentrati... |
OMIM:201475 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... |
ORPHA:2020 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Hypertelorism, Protruding ear, Low posterior hairline, Deeply set eye, Hydrocele testis, Astigmat... |
OMIM:619493 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver... |
OMIM:610202 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Nyctalopia, Jaundice, Osteoporosis, Bili... |
ORPHA:79301 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis |
OMIM:540000 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Neonatal respiratory distress, Lumbar hyperlordosis, Severe short stature, Short ne... |
OMIM:615777 |
Morquio Syndrome C |
|
Platyspondyly, Severe short stature, Corneal opacity |
OMIM:252300 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Abnormal heart valve morphology, Grayish enamel... |
ORPHA:582 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Increased C-peptide level, Large for gestational age |
ORPHA:276580 |
Trisomy 12P |
|
Short stature, Supernumerary nipple, Short neck, Hypertelorism, Aplasia/Hypoplasia of the iris, A... |
ORPHA:1699 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Hypertelorism, Asplenia, Kyphosis, Cryptorchidism, Protruding ear, Hyp... |
OMIM:619123 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Chorioretinal hypopigmentation, Premature adrenarche, Micropenis, Hypopig... |
ORPHA:398079 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Short stature, Hypertelorism, Secundum atrial septal defect, Synophrys, Wid... |
OMIM:620072 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Short stature, Abnormal auditory evoked potentials, Hypertelorism, Sensorineural ... |
OMIM:109120 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lip... |
OMIM:614487 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hair... |
OMIM:612289 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Cardiomegaly, Sparse hair, Megalocornea, Hypopigmentation of the skin, ... |
OMIM:252500 |
Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Irregu... |
OMIM:609223 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... |
ORPHA:352540 |
Myotonia Permanens |
|
Short stature, Hyperlordosis, Dyspnea, Asthma, Limitation of joint mobility, Generalized muscle h... |
ORPHA:99735 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Short stature, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Low posterior hairline, V... |
ORPHA:1323 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormal intervertebral disk morphology, Lumbar hyperlordosis, Short stature, Se... |
ORPHA:99642 |
Hermansky-Pudlak Syndrome |
|
Anorexia, Photophobia, Abnormal optic nerve morphology, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:79430 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Prolactinoma |
|
Osteopenia, Bitemporal hemianopia, Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Ve... |
ORPHA:2965 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Short stature, Kyphosis, Platyspondyly, Scolio... |
OMIM:230650 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cholangitis, Portal hypertension... |
ORPHA:228426 |
Hallermann-Streiff Syndrome |
|
Chorioretinal coloboma, Sparse hair, Iris coloboma, Hyperactivity, Hyperlordosis, Sparse eyebrow,... |
OMIM:234100 |
Angelman Syndrome |
|
Gastroesophageal reflux, Vomiting, Hypopigmentation of the skin, Iris hypopigmentation, Keratocon... |
ORPHA:72 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Posteriorly rotated ears, Ventri... |
OMIM:619980 |
Sheldon-Hall Syndrome |
|
Short stature, Tarsal synostosis, Short neck, Joint stiffness, Protruding ear, Vertebral segmenta... |
ORPHA:1147 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Reduced vital capacity, Cataract, Decreased distal senso... |
ORPHA:99956 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Bicarbonaturia, Reduced bone mineral density, Nephrocalcinosis... |
ORPHA:47159 |
Weill-Marchesani Syndrome 2 |
|
Shallow orbits, Thickened helices, Lumbar hyperlordosis, Short stature, Spinal canal stenosis, Sh... |
OMIM:608328 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystro... |
ORPHA:369840 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... |
ORPHA:33543 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:828 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Short stature, Aggressive behavior, Protruding ear, Myopathy |
ORPHA:85329 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
Canavan Disease |
|
Blindness, Optic atrophy, Elevated urinary N-acetylaspartic acid level, Brain atrophy, CNS demyel... |
OMIM:271900 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Nyctalopia, Functional abnormality of the bladder, Cataract |
ORPHA:2571 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Paraparesis, Ataxia, Tremor |
ORPHA:99014 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Hiatus hernia, Precocio... |
ORPHA:50 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Cardiac arrest, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Prematu... |
OMIM:616878 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
Acrofrontofacionasal Dysostosis 2 |
|
Sacral dimple, Hypospadias, Posteriorly rotated ears, Short stature, Hypertelorism, Widow's peak,... |
OMIM:239710 |
Cryptococcosis |
|
Respiratory distress, Blindness, Osteomyelitis, Pneumonia, Abnormal retinal morphology, Dyspnea, ... |
ORPHA:1546 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hepatomegaly, Renal insufficiency, Short stature, Hyperlordosis, Hypertelori... |
OMIM:226980 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Abnormal circulating creatine kinase concentrati... |
OMIM:615959 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Tongue fasciculations, Lethargy, Myoclonus |
OMIM:614922 |
Gaucher Disease |
|
Osteopenia, Osteoarthritis, Abnormality of skin pigmentation, Cherry red spot of the macula, Hepa... |
ORPHA:355 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Visual impairment, Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Abnormal vestibular function, Neurogenic bladder, Skeletal muscle atrophy, Di... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Abnormal vestibular function, Neurogenic bladder, Skeletal muscle atrophy, Di... |
ORPHA:276241 |
20P13 Microdeletion Syndrome |
|
Failure to thrive in infancy, Posteriorly rotated ears, Highly arched eyebrow, Abnormal pinna mor... |
ORPHA:313781 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Bitemporal hemianopia, Abnormal visual field test, Elevated circulating thyroid-stimu... |
ORPHA:91347 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Corneal opacity, ... |
OMIM:236670 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ... |
ORPHA:1798 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Corneal c... |
ORPHA:411634 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Myopia, Visual loss, Flexion contracture, Optic atrophy, Opto-chiasmatic atro... |
OMIM:615491 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Delayed myelination, Tongue thrusting, Protruding ear, Constipation, Gastroesophageal r... |
OMIM:613454 |
Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
Atelosteogenesis Type I |
|
Rhizomelia, Hypertelorism, Abnormal ossification involving the femoral head and neck, Coronal cle... |
ORPHA:1190 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morphology, Sparse... |
ORPHA:2399 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
C3 Glomerulopathy |
|
Hypertension, Lipodystrophy, Elevated circulating creatinine concentration |
ORPHA:329918 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni... |
ORPHA:2260 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Subcapsular cat... |
OMIM:600059 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Synophrys, Protruding ear, Hypotelorism, Deeply set eye, Atria... |
OMIM:612474 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Hypogonadotropic hypogonad... |
ORPHA:177910 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Increased body ... |
ORPHA:263455 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Dyspnea, Congestive heart failure, Oliguria, Heart murmur, Bacterial endoca... |
ORPHA:1054 |
Kbg Syndrome |
|
Vertebral fusion, Posteriorly rotated ears, Short stature, Short neck, Hypertelorism, Epispadias,... |
OMIM:148050 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness |
ORPHA:97229 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Short neck, Asplenia, Hemivertebrae, Hypotelorism, Endocardial fibroelastosi... |
ORPHA:99776 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Severe short stature, Rhizomelia, Corneal opacity, Short neck, Respiratory insuffi... |
ORPHA:239 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Failure t... |
ORPHA:477817 |
Susac Syndrome |
|
Lethargy, Apathy, Upper motor neuron dysfunction, Gait ataxia |
ORPHA:838 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra... |
OMIM:607459 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Constriction of peripheral visual field, Short stature, Short neck, Patchy atro... |
ORPHA:436245 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Sparse eyebrow, Cryptorchidism, Protruding ear, Fetal megacystis, C... |
ORPHA:73246 |
Vascular Malformation, Primary Intraosseous |
|
Visual loss, Umbilical hernia, Proptosis, Diastasis recti |
OMIM:606893 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint stiffness, Short neck, ... |
ORPHA:583 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Skeletal muscle atrophy, Blindness, Hip flexor weakness, Lower limb muscle we... |
ORPHA:845 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... |
OMIM:618321 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Apathy, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Myopia, Keratoconus, Hearing impairment, Visual loss, Mitral valve prolapse, Atypic... |
OMIM:229200 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity, Red hair, Hepatic steatosis |
OMIM:620195 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... |
ORPHA:137675 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Recurrent fractures, Polyuria, Dyspnea, Splenomegaly... |
OMIM:239200 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Vomiti... |
ORPHA:18 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertensive retinopathy, Left ventricular hypertrophy, Short stature, Abnor... |
ORPHA:320 |
Snijders Blok-Fisher Syndrome |
|
Delayed CNS myelination, Facial hypotonia, Cryptorchidism, Cupped ear, Protruding ear |
OMIM:618604 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Nyctalopia,... |
OMIM:618220 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Op... |
OMIM:618476 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Premat... |
ORPHA:90324 |
Dpagt1-Cdg |
|
Flexion contracture, Intracranial hemorrhage, Diffuse optic disc pallor, Hepatomegaly, Osteoporos... |
ORPHA:86309 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Clumsiness, Depression, Macroglossia, Abnormal circulating thyroglobulin le... |
ORPHA:90674 |
Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Decreased pyruvate carb... |
OMIM:229300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Synophrys, Cholecystitis, Hypopigmentation of the skin, Abnormal repetitive mannerisms, Myopia, H... |
OMIM:301066 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Cough, Chronic otitis media, Abnormality of the hypothalamus-pituitary a... |
ORPHA:900 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Protruding ear, Gastroesophageal reflux, Hippocampal atrophy, Abnormal repetitive mann... |
OMIM:614756 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Hypertelorism, Cryptorchidism, Protruding ear, Low posterior hairline, Joint hyperflexibility, Lo... |
ORPHA:1778 |
Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Aggressive behavior, Obesity, Hypertension, Agitation, Lo... |
OMIM:612469 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ragged-red muscle fibers, Ataxia, Slurred speech |
ORPHA:1349 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias, Short stature |
ORPHA:1355 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal mitral valve morphology, Pectus excava... |
ORPHA:1131 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... |
ORPHA:666 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Depres... |
OMIM:617675 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Hypotelorism, Vesicoureteral reflux, Atrial septal defect... |
OMIM:610443 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Delayed calcaneal ossification, Barrel-... |
OMIM:183900 |
Chromosome 17Q12 Deletion Syndrome |
|
Pica, Renal cyst, Protruding ear, Multicystic kidney dysplasia, Short stature, Highly arched eyeb... |
OMIM:614527 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short stature, Capitate-hamate fusion, Proptosis, Coronal craniosynostosis, Limited elbow extensi... |
OMIM:614078 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Camptodactyly of finger, Joint stiffness,... |
ORPHA:1752 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Pectus excavatu... |
OMIM:611588 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Blindness, Failure to thrive, Homocystinuria, Cerebral atrophy |
OMIM:250940 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Myopia, Hyperactivity, Lumbar hyperlordosis, Hyperlordosis, Aggressive behavior, Hypertelorism, S... |
OMIM:616078 |
Cyclic Vomiting Syndrome |
|
Lethargy, Ataxia |
OMIM:500007 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... |
OMIM:607624 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg... |
OMIM:614866 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatin... |
ORPHA:1652 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Amblyopia, Self-injurious behavior, Tho... |
OMIM:619467 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Shallow ante... |
OMIM:267760 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Protruding ear, Deeply set eye, Spina bifida occulta, Multicystic kidn... |
ORPHA:500095 |
Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Hypertelorism, Proptosis, Attention deficit hyperactivity disorder, Thick eyebrow, H... |
OMIM:619736 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Gastroesop... |
OMIM:194190 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Deeply set eye, Abnormal repetitive manne... |
ORPHA:508533 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Perimembranous ventricular septal defect, Hypoalbu... |
OMIM:608104 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac d... |
ORPHA:537 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... |
OMIM:602400 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Cerebellar atrophy, Hip contracture, Severe short stature, Hypospadias, Severe generalized osteop... |
OMIM:210730 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Low anterior hairline, Finger joint hypermobility, Micropenis, Abnormal toena... |
OMIM:212720 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Intestinal... |
ORPHA:897 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr... |
OMIM:264180 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Lumbar hyperlordosis, Short stature, Sensorineural hearing impairment, ... |
OMIM:215150 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Sudanophilic leukodystrophy, Flexion contracture, Hypo... |
OMIM:264090 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis, Short stature, Osteolysis |
ORPHA:2776 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Severe short stature, Posteriorly rotated ears, Facial palsy, Cat... |
ORPHA:2780 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Hyperlordosis, Pectus excavatum, Hearing abnormality, Abnormality of the ea... |
ORPHA:2511 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Patchy atrophy of the retinal pigme... |
ORPHA:67042 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Corneal opacity, Thick hair, Postnatal growth retardation, Increased susceptibil... |
ORPHA:357058 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Impulsivity, Sensorineural... |
OMIM:614116 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sacral dimple, Posteriorly rotated ears, Craniosynostosis, Sclerocor... |
OMIM:600920 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Tachypnea, Gastroesophageal reflux, Atrial septal defec... |
ORPHA:79345 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Diplopia, Distal amyotrophy, Proptosis, Abnormal autonomic nervous system phy... |
OMIM:109150 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Sacral dimple, Short stature, Ventricular septal defect, Impulsivity, Hypogon... |
OMIM:301030 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Acute hyperammonemia, Failure to thrive, Opisthotonus |
OMIM:210200 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphat... |
ORPHA:3337 |
Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Keratitis, Corneal scarring, Corneal... |
OMIM:256800 |
X-Linked Corneal Dermoid |
|
Visual loss, Abnormal pupil morphology, Corneal opacity, Visual impairment |
ORPHA:1661 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Abnormal curvature of the vertebral column, Protruding ear, Vomiting, Hernia, Emphyse... |
ORPHA:90348 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Moderate myopia, Short neck, Low anterior hairline, Deeply set eye, Gastroesophageal reflux, Thic... |
OMIM:619950 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Dystonia |
ORPHA:306669 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Apnea, Decreased response to growth hormone stimulation ... |
OMIM:619503 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, L... |
ORPHA:116 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Hypertelorism, Keratitis, Synophrys, Microtia, Conjunc... |
OMIM:602562 |
Maple Syrup Urine Disease |
|
Ataxia, Elevated circulating branched chain amino acid concentration, Hypertonia, Elevated circul... |
OMIM:248600 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Noonan Syndrome |
|
Abnormality of the spleen, Coarse hair, Thickened helices, Low-set, posteriorly rotated ears, Hep... |
ORPHA:648 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Anorexia, Abnormal ret... |
ORPHA:33226 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Thick hair, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Depression, Increa... |
ORPHA:502423 |
Hereditary Fructose Intolerance |
|
Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy |
ORPHA:469 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Achilles tendon contracture, Spotty hypopigmentation, Hypotelorism, Scolios... |
OMIM:619719 |
Full Nf2-Related Schwannomatosis |
|
Abnormal optic nerve morphology, Wrist drop, Foot dorsiflexor weakness, Facial palsy, Posterior s... |
ORPHA:637 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hypokalemia, Failure to thrive |
OMIM:611590 |
Wilson Disease |
|
Back pain, Hepatomegaly, Acute hepatitis, Aggressive behavior, Hypersexuality, Splenomegaly, Jaun... |
ORPHA:905 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Rhizomelia, Cryptorchidism, D... |
OMIM:602471 |
Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Photophobia, Glomerulopathy, Retro... |
ORPHA:117 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal vestibular function, Diplopia, Proptosis, Skeletal muscle atrophy |
ORPHA:98757 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Bull's eye maculopathy, Central hypoventilation, Apnea, Left ventricul... |
OMIM:620167 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Generalized limb muscle atrophy, Tru... |
ORPHA:137898 |
3Mc Syndrome 3 |
|
Sacral dimple, Abnormal pinna morphology, Diastasis recti, Highly arched eyebrow, Short stature, ... |
OMIM:248340 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Blindness, Sclerotic scapulae, Increased intervertebral space... |
OMIM:224300 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Involuntary... |
ORPHA:48818 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Gastrointestinal hemorrhage, Retinal detachment, Myopi... |
OMIM:225400 |
Usher Syndrome, Type Iid |
|
Abnormal vestibular function, Nyctalopia, Rod-cone dystrophy, Hearing impairment |
OMIM:611383 |
Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:617056 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Lower limb amyotrophy, CNS... |
OMIM:610532 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Salt craving, Short stature, Polyuria, Renal salt wasting, Sensorineural hear... |
OMIM:612780 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction... |
OMIM:250100 |
Cinca Syndrome |
|
Papilledema, Hepatosplenomegaly, Growth delay, Arthritis, Proptosis, Progressive sensorineural he... |
OMIM:607115 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Short stature, Sensorineural hearing impairment, Cupped ear, Protruding ear, Low-set ears |
ORPHA:2533 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Limited elbow movement, ... |
ORPHA:268 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Decreased number of large peripheral myelinated nerve fiber... |
OMIM:223900 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral... |
ORPHA:79102 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Ataxia, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammo... |
OMIM:207900 |
Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Hypoplastic toenails, Shallow orbits, Hypospadias, ... |
OMIM:166250 |
Wyburn-Mason Syndrome |
|
Iris hypopigmentation, Epistaxis, Cerebral hemorrhage, Subarachnoid hemorrhage, Visual loss, Reti... |
ORPHA:53719 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Truncus arteriosus, H... |
ORPHA:2008 |
Momo Syndrome |
|
Blindness, Underfolded helix, Short stature, Hyperconvex nail, Large for gestational age, Short n... |
ORPHA:2563 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Short stature, Craniosynostosis, Ventricular septal defect, Sparse eyebrow, Rod... |
OMIM:250410 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nausea, Cereb... |
ORPHA:369929 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Posteriorly rotated ears, Aggressive behavior, Synophrys, Low anterio... |
OMIM:618479 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Respi... |
ORPHA:1860 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Skeletal muscle atrophy, Osteomyel... |
OMIM:162400 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Restlessness, Decreased testicular size, Lumbar hyperlordosis, Ventricular septal def... |
ORPHA:251028 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Facial palsy, Curly eyelashes, Congenital diaphragmatic hernia, Sensorineural hear... |
OMIM:301022 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Lethargy, Parkinsonism, Tremor |
ORPHA:83600 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, Corneal opacity, Congenital diaphragmatic hernia, Hyper... |
ORPHA:1647 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Hyperphosphaturia, Short stature, Recurrent fractures, Kyphoscoliosis, Corn... |
OMIM:163200 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Delayed myelination, Symmetrical progre... |
OMIM:231670 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Protruding ear, Attention deficit hype... |
OMIM:618798 |
Arima Syndrome |
|
Tachypnea, Hepatic fibrosis, Nephronophthisis, Chorioretinal coloboma, Hepatic steatosis, Tubuloi... |
OMIM:243910 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Sensorineural ... |
ORPHA:53271 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Sacral dimple, Inguinal hernia, Pectus excavatum, Cryptorchidi... |
ORPHA:363659 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:614298 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Asplenia, Patchy reduction of bone mineral density, Patent foramen ovale,... |
ORPHA:221120 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Photophobia, Deeply set eye, Conjunctivitis, Male hypogonadi... |
ORPHA:90321 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat... |
OMIM:618195 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Cryptorchidism, Myopathy, Mus... |
OMIM:307030 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Pectus excavatu... |
OMIM:162300 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Fryns Syndrome |
|
Omphalocele, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Cornea... |
ORPHA:2059 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Decreased number of large per... |
OMIM:270550 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension... |
OMIM:602088 |
Apert Syndrome |
|
Hypertelorism, Sensorineural hearing impairment, Corneal erosion, Optic atrophy, Cervical C5/C6 v... |
ORPHA:87 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Renal cyst, Hypotelorism, Deeply set eye, Gastroesophageal reflux, Vesicoureteral reflux, Patent ... |
OMIM:616975 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus totalis, Eleva... |
OMIM:613095 |
Norrie Disease |
|
Retinal detachment, Blindness, Cataract, Corneal opacity, Aggressive behavior, Sensorineural hear... |
OMIM:310600 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Iris atrophy, Short stature, Osteoporosis, Increased susceptibil... |
OMIM:259770 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Hypertelorism... |
ORPHA:140 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contra... |
OMIM:210710 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Clonus, Elevated circulating creatine kinase concentr... |
OMIM:615673 |
Abetalipoproteinemia |
|
CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration |
OMIM:200100 |
Saul-Wilson Syndrome |
|
Cataract, Short stature, Pectus excavatum, Hypoplasia of the odontoid process, Sensorineural hear... |
OMIM:618150 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H... |
OMIM:606070 |
Craniopharyngioma |
|
Bitemporal hemianopia, Abnormal visual field test, Myocardial infarction, Neoplasm of the anterio... |
ORPHA:54595 |
Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Immotile cilia, ... |
OMIM:312612 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic fingernail, Abnormal pinna morphology, Rhizomelia, Short neck, Hypoplast... |
OMIM:228520 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Myopia, Inguinal hernia, Ureteral stenosis, Hypopigmentation of hair, Short stature, Corneal opac... |
ORPHA:2719 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, ... |
ORPHA:320375 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Perifoveal ring of hype... |
OMIM:240300 |
Weill-Marchesani Syndrome 1 |
|
Blindness, Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate short st... |
OMIM:277600 |
Nail-Patella Syndrome |
|
Back pain, Ridged nail, Biceps aplasia, Absence of pectoralis minor muscle, Microcornea, Keratoco... |
OMIM:161200 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Weight loss, D... |
ORPHA:399 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... |
ORPHA:79474 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Upper limb mus... |
ORPHA:1435 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Flexion contracture, Protruding ear, Deeply set eye, Gastroesophageal reflux, Sparse h... |
OMIM:618332 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Hyperactivity, Posteriorly rotated ears, Short stature, Craniosynostosis, Hypertelorism... |
OMIM:601853 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Vomiting, Sparse hair, Juvenile cataract, Hypopigmentation of the skin, Hypothyroidis... |
ORPHA:221008 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hypertelorism, Proptosis, Craniosynostosis, Melanocytic nevus |
OMIM:612247 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Telangiectasia of the oral mucosa, Increased urinary O-linked sialo... |
OMIM:609242 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Nyctalopia, L... |
OMIM:266500 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Deeply set eye, Vomiting, Hepatic steatosis, Profound hearing i... |
OMIM:619418 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Hyperlordosis, ... |
ORPHA:457395 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... |
OMIM:618161 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Neoplasm of the pancreas, Anorexia, P... |
ORPHA:370348 |
Fibrochondrogenesis |
|
Omphalocele, Short stature, Camptodactyly of finger, Short neck, Hypertelorism, Hearing abnormali... |
ORPHA:2021 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir... |
ORPHA:119 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... |
ORPHA:282166 |
Citrullinemia, Classic |
|
Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrull... |
OMIM:215700 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Optic atrophy,... |
ORPHA:95 |
Frias Syndrome |
|
Posteriorly rotated ears, Short stature, Hypertelorism, Cupped ear, Proptosis |
OMIM:609640 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:311250 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Slow decrease in visual acuity, Photophobia, Astigmatism, Centra... |
ORPHA:98960 |
Insulinoma |
|
Tremor, Lethargy, Increased body weight |
ORPHA:97279 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Hyperactivity, Abnormal eating behavi... |
ORPHA:98794 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:613723 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion cont... |
OMIM:271640 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,... |
ORPHA:170 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Tricuspid regurgitation, Short stature, Hypoplastic right heart, Vent... |
OMIM:616894 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... |
OMIM:619991 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Sparse scalp hair, Short stature, Recurrent fractures, Craniosynostosis... |
OMIM:130070 |
Xia-Gibbs Syndrome |
|
Delayed CNS myelination, Uplifted earlobe, Hypertelorism, Protruding ear, Low-set ears, Small ear... |
OMIM:615829 |
Melnick-Needles Syndrome |
|
Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hyperte... |
OMIM:309350 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Otitis media, Shallow orbits, Conductive hearing ... |
ORPHA:576 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Blindness, Sparse eyelashes, Hyperteloris... |
ORPHA:66625 |
Oculoskeletodental Syndrome |
|
Short stature, Hyperlordosis, Sensorineural hearing impairment, Developmental cataract, Nephrocal... |
ORPHA:557003 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Blindness, Abnormality of retinal pigmentation, Cataract, Visual loss, Lens s... |
ORPHA:171844 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Short neck, Protruding ear, Abnormal repetitive mannerisms, Joint laxity, Nail-biting, Delayed CN... |
OMIM:620330 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Short neck, Aortic valve stenosis, Retinal degeneration, S... |
OMIM:607016 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Lipodystrophy, Postnatal growth retardation, Dyspnea, Congenital gener... |
ORPHA:435628 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Depression, EMG: myopathic abnormal... |
OMIM:609286 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate lau... |
ORPHA:411515 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Hypoplasia of the iris, Hypopigmentation of the skin, Short stature,... |
OMIM:251300 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Pectus excavatum, Renal hypoplasia, Respiratory insufficiency, Myop... |
OMIM:618975 |
Acrocapitofemoral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Hyperlordosis, Pectus excavatum, Broad nail, Scoliosis, Sm... |
ORPHA:63446 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Vomiting, Prematur... |
ORPHA:739 |
Orofacial Cleft 15 |
|
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Protruding ear, Low-set ears, Hi... |
OMIM:616788 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco... |
ORPHA:1159 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Right ventricular dilatation, D... |
OMIM:619472 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Hyperhidrosis, Elevated circulating pa... |
ORPHA:653 |
Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Very low visual acuity, Corneal opacity, Chorioretinal degeneration,... |
ORPHA:98973 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Increased circulating procalcitonin concentration, Diabetes mellitus... |
ORPHA:36238 |
Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
Familial Anetoderma |
|
Generalized joint laxity, Lumbar hyperlordosis |
ORPHA:228277 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal dystrophy, Short neck, Synophrys, Low anterior hairline, Renal cyst, Gastroesophageal ref... |
ORPHA:495875 |
Oculoectodermal Syndrome |
|
Hyperactivity, Transient ischemic attack, Supernumerary nipple, Short neck, Limbal dermoid, Chori... |
OMIM:600268 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Xerostomia... |
ORPHA:803 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Hyperglycinemia, Lethargy, Failure to thrive |
OMIM:251000 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral b... |
ORPHA:2636 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Corneal opacity, Scarring, Craniosynostosis, Onychogrypos... |
ORPHA:79396 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Decreased serum testosterone concentration, Streak ovary, Abnormal perip... |
ORPHA:168563 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Thoracic hemivertebrae, Micropenis, Renal duplicatio... |
OMIM:268310 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Short stature, Cupped ear, Protruding ear, Growth delay, Macroglossia, Na... |
ORPHA:93947 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Blue irides, Reduced visual a... |
ORPHA:352731 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Blindness, Hepatomegaly, Urinary incontinence, ... |
OMIM:268800 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Distal amyotrophy, Hy... |
OMIM:616505 |
Robinow Syndrome |
|
Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic vertebrae, Multicys... |
ORPHA:97360 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Juvenile Nasopharyngeal Angiofibroma |
|
Diplopia, Proptosis, Epistaxis |
ORPHA:289596 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Short neck, Hypertelorism, Thyroid lymp... |
OMIM:235255 |
Yunis-Varon Syndrome |
|
Anterior concavity of thoracic vertebrae, Sclerocornea, Palmoplantar hyperkeratosis, Protruding e... |
OMIM:216340 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Parkinsonism, Tremor, Obesity,... |
ORPHA:3077 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Mixed hearing impairment, Short stature, Kyphoscoliosis, Hypertelorism, Cryptorchi... |
OMIM:616331 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short stature, Ventricular septal defect, Optic neuropathy, Cerebral visual impairment, Increased... |
OMIM:619727 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentra... |
OMIM:620306 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Blindness, Hypospadias, Hypertelorism, Cryptorchidism, Abnormal heart morphology... |
OMIM:601499 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228302 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Myopia, Inguinal hernia, Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process,... |
OMIM:184250 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Sparse scalp hair, Severe short stature, Small for gestational age, Sparse eyebrow, S... |
OMIM:615789 |
Larsen Syndrome |
|
Cervical kyphosis, Shallow orbits, Atrial septal defect, Conductive hearing impairment, Spina bif... |
OMIM:150250 |
Renal Tubular Dysgenesis |
|
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Hypotension, Renotubular dy... |
OMIM:267430 |
Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Bicuspid aortic valve, Nyctalopia, Mic... |
OMIM:618955 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Aortic regurgitation, Multicystic kidney dysplasia, Atrial sep... |
ORPHA:1052 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Poly... |
ORPHA:562 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi... |
ORPHA:449285 |
Immunoneurologic Disorder, X-Linked |
|
Nyctalopia, Functional abnormality of the bladder, Small for gestational age |
OMIM:300076 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... |
OMIM:617547 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Delayed CNS myelination, Short stature, Blindness, Decreased response to grow... |
OMIM:615926 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Reduced visual acuity, Microco... |
OMIM:615145 |
Peters Plus Syndrome |
|
Ureteral duplication, Short neck, Bicuspid pulmonary valve, Abnormality of vision, Microcornea, C... |
ORPHA:709 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Abnormal ... |
ORPHA:415 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypospadias, Short neck, Hypertelorism, Aplasia/Hypoplasia of ... |
ORPHA:1642 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Ventricular septal defect, Large for gestational age, Hyperte... |
OMIM:617107 |
Hypomagnesemia 3, Renal |
|
Myopia, Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Ch... |
OMIM:248250 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Depression, Truncal... |
OMIM:300957 |
Usher Syndrome Type 2 |
|
Myopia, Cataract, Abnormal dental enamel morphology, Scotoma, Visual loss, Sensorineural hearing ... |
ORPHA:231178 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Decreased response to growth hormone stimulation test, Hyperhidrosis, Vomi... |
ORPHA:96182 |
Chitayat Syndrome |
|
Respiratory distress, Short stature, Hypertelorism, Pectus excavatum, Proptosis, Tracheomalacia |
OMIM:617180 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Joint stiffness, Pectus excavatum, Scoliosis, Mild short stature |
OMIM:618167 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Nausea, Glucocortocoid-insensitive primary... |
ORPHA:251274 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas... |
OMIM:120330 |
Lowry-Wood Syndrome |
|
Small for gestational age, Short stature, Nyctalopia, Elbow flexion contracture, Peripheral visua... |
OMIM:226960 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Self-injurious beh... |
ORPHA:96125 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Cryptorchidism, Hypocalcemia, Lethargy, Failure to thrive |
OMIM:607143 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Abnormal dental enamel morphology, Keratoconjunctivitis, Arthritis, ... |
ORPHA:2363 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Vertebral segmentation defect, Vertebral fusion, Scapular winging, Hyperl... |
OMIM:272460 |
Vici Syndrome |
|
Albinism, Hypotelorism, Abnormal thymus morphology, Atrial septal defect, Hypopigmentation of the... |
OMIM:242840 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Osteomyelitis, Tachycardia, Elevated circulating creatine kinase concentration,... |
ORPHA:36234 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Bl... |
ORPHA:1187 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Protruding ear, Growth delay, Scolio... |
OMIM:619557 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr... |
OMIM:256600 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... |
OMIM:112240 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Incoordination, Small for gestational age, Hyperhomocystinemia, Cystathio... |
OMIM:277380 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Humeroradial synostosis, Flexion contracture, Upper airway obstruction... |
OMIM:207410 |
Yunis-Varon Syndrome |
|
Sclerocornea, Cardiomegaly, Atrial septal defect, Micropenis, Decreased skull ossification, Absen... |
ORPHA:3472 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Hypermanganesemia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Decreased response to growth hor... |
OMIM:213980 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Posterior subcaps... |
OMIM:613843 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Constriction of peripheral visual field, Proteinuria, Bilatera... |
OMIM:619471 |
Microphthalmia, Syndromic 6 |
|
Uplifted earlobe, Sclerocornea, Adrenal hypoplasia, Protruding ear, Microcornea, Abnormality of t... |
OMIM:607932 |
Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Low-set ears, Elevated urinary 5-amin... |
OMIM:608688 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowe... |
ORPHA:240071 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Atrial septal defect, Severe short stature, Aganglionic ... |
ORPHA:1051 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Dystonia, Lethargy |
OMIM:277410 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Hypertelorism, Cryptorch... |
OMIM:618820 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Con... |
OMIM:615919 |
Biotinidase Deficiency |
|
Alopecia, Ataxia, Hyperammonemia, Spastic paraparesis, Lethargy, Limb muscle weakness |
ORPHA:79241 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Posteriorly rotated ears, Short stature, Bicuspid aortic valve, Hype... |
OMIM:618529 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... |
ORPHA:230 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... |
ORPHA:894 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Restless legs, Blindness, Congestive heart failure, ... |
ORPHA:94147 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Reduced bone mineral density, Vomiting, Sparse hair, Juvenile cataract, Hypopigmentat... |
ORPHA:2909 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Lethargy |
ORPHA:3282 |
Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Corneal opacity, Iris coloboma, Abnormal eyel... |
ORPHA:2396 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Deeply set eye, Tics, Absent fingernail, Compulsive behaviors, Atrial septal defect, Short statur... |
ORPHA:261330 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Cerebellar atrophy, Posteriorly rotated ears, Hyperlordosis, Sparse eyebrow, Large ... |
OMIM:617011 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Peripheral dysmyelina... |
OMIM:260565 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammat... |
ORPHA:95455 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Hypertelorism, Opt... |
OMIM:123790 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Dural Sinus Malformation |
|
Papilledema, Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Ear pain, Cerebell... |
ORPHA:97339 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Th... |
OMIM:114300 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:578 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Anorexia, Nephrogenic diabetes insipidus, Functi... |
ORPHA:223 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Severe shor... |
OMIM:607095 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Diarrhea, Axonal degeneration, Vomiting |
OMIM:106100 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Tremor, Hyperammonemia, Hyperglycinemia, Lethargy, Failure to thrive |
OMIM:251100 |
Wilson Disease |
|
Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Ost... |
OMIM:277900 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Respiratory distress, Ventricular septal defect, Respiratory failure, Proptosis, Low... |
OMIM:617895 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Anuria, Peritonitis, Sensorineural hearing im... |
OMIM:619351 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... |
OMIM:616586 |
Parathyroid Carcinoma |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased respons... |
ORPHA:3464 |
Xylt1-Cdg |
|
Joint laxity, Myopia, Hepatomegaly, Short stature, Synophrys, Growth delay, Truncal obesity, Prop... |
ORPHA:370930 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Keratitis, Photophobia, Opacification of the corneal stroma, Conjunctival hy... |
OMIM:148200 |
Marchiafava-Bignami Disease |
|
Facial palsy, Urinary incontinence, Aggressive behavior, Vertigo, Diplopia, Abnormality of vision... |
ORPHA:221074 |
Idiopathic Panuveitis |
|
Blindness, Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal m... |
ORPHA:280921 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of vision, Deeply set eye... |
ORPHA:1606 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Alopecia, Lumbar hyperlordosis, Small ... |
ORPHA:2232 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammo... |
OMIM:255120 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Blindness, Ventricular septal defect, Kyphosis, Knee... |
OMIM:603387 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Blindness, Sinusitis, Stiff neck, Pneumonia, Facial palsy, Vis... |
ORPHA:68 |
Hypochondroplasia |
|
Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Join... |
ORPHA:429 |
Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Craniosynostosis, Short neck, External ear malformati... |
ORPHA:3103 |
Kabuki Syndrome 1 |
|
Premature thelarche, Protruding ear, Atrial septal defect, Micropenis, Abnormal vertebral morphol... |
OMIM:147920 |
Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hearing impairment, Hip joint hypermobility, Kyphosis, Dispropo... |
ORPHA:15 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Abnormal pinna morphology, Camptodactyly of finger, Short stature, Mesomeli... |
ORPHA:2839 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Abnormality of the kidney, Sensorineural hearing... |
ORPHA:895 |
Joubert Syndrome 6 |
|
Blindness, Breathing dysregulation, Stage 5 chronic kidney disease, Hepatic fibrosis, Bile duct p... |
OMIM:610688 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Astigma... |
OMIM:618885 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia, Follicular hyperkeratosis, Bitot spots of the conjunctiva |
OMIM:277350 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, Low anterior hairline, Knee flexion contracture, Protruding... |
OMIM:614976 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Recurrent fractures, Craniosynostosis... |
ORPHA:83 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Neurogenic bladder, Cerebral visual impairment, Delayed myelination, Flexion ... |
OMIM:616683 |
Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Blindness, Epistaxis, Abnormality of the splee... |
ORPHA:548 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Sickle Cell Anemia |
|
Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:232 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Hypertelorism, Low anterior hairline, Abnormality of vision, Coarse ... |
ORPHA:2095 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy, Hyperlordosis, Abnormal eyelash morphology, Abnormal retinal vascular mo... |
ORPHA:269 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Posterior subcapsular catarac... |
OMIM:258870 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Barrel-shaped chest, Recurrent fractures, Multiple pre... |
OMIM:610915 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Amblyopia, Hypertelorism, Limitation of joint mobility, Vesicoureteral refl... |
ORPHA:93260 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, G... |
OMIM:617710 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Highly arched eyebrow, H... |
OMIM:303600 |
Baller-Gerold Syndrome |
|
Failure to thrive in infancy, Short stature, Hypertelorism, Conductive hearing impairment, Abnorm... |
ORPHA:1225 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Short neck, Hyperlordosis, Delayed epiphyseal ossification, P... |
ORPHA:93352 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hepatomegaly, Decreased nerve conduct... |
OMIM:214500 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral ... |
OMIM:617914 |
Okamoto Syndrome |
|
Urinary incontinence, Primum atrial septal defect, Gastroesophageal reflux, Abnormal mitral valve... |
ORPHA:2729 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Short stature, Ventricular sep... |
ORPHA:1908 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Nyctalopia, Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone ... |
OMIM:600151 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Irregular vertebral endplates, Juvenile rheumatoid arthritis, Hyp... |
OMIM:607944 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Corneal opacity, Hypertelorism, Pulmonary v... |
ORPHA:3474 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hypoglycemia, Bicarbonaturia, Glycosuria, H... |
OMIM:229600 |
Holoprosencephaly 11 |
|
Synophrys, Hypotelorism, Proptosis, Polysplenia, Thick eyebrow |
OMIM:614226 |
X-Linked Intellectual Disability, Pai Type |
|
Inguinal hernia, Cryptorchidism, Protruding ear, Hydrocele testis, Intrauterine growth retardation |
ORPHA:85322 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Nyctalopia, Osteolysis, Scoliosis, Dystrophic finge... |
ORPHA:1657 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Constriction of peripheral visual field, Myocardial infarction, Cerebral hemorrh... |
ORPHA:90065 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Epispadias, Hemivertebrae, Abnormal form of the vertebral bodies... |
ORPHA:3107 |
Sarcoidosis |
|
Heart block, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitial nephritis, Cough, Emph... |
ORPHA:797 |
Classic Homocystinuria |
|
Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hernia, Myopia, Hepatomegaly, Osteoporosis... |
ORPHA:394 |
Familial Cold Urticaria |
|
Sensorineural hearing impairment, Hyperhidrosis, Arthritis, Conjunctivitis, Polydipsia |
ORPHA:47045 |
Toluene Embryopathy |
|
Short stature, Cryptorchidism, Abnormal localization of kidney, Protruding ear, Low-set ears, Hyd... |
ORPHA:1920 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Short neck, Knee flexion contracture, Hyperhidrosis, Deeply set eye, Blotching pigmentatio... |
OMIM:601559 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Photophobia, Aminoaciduria, Pterygium, Alopecia, Short stature, Hype... |
ORPHA:910 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal loc... |
ORPHA:522077 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Bilateral renal ... |
OMIM:243605 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D... |
ORPHA:93111 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Short stature, Pectus excavatum, Disproportionate short-limb short stature,... |
ORPHA:156728 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Iris hypopigmentation, Camptodactyly of finger, Sclerocornea, Shor... |
ORPHA:284160 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Facial palsy, Hypogonadotropic hypogonadism, Aplasia of... |
ORPHA:570 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Ragged-red muscle fibers, Myo... |
OMIM:607426 |
Momo Syndrome |
|
Blindness, Underfolded helix, Hyperconvex nail, Short neck, Hypertelorism, Obesity, Retinal coloboma |
OMIM:157980 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Branchiooculofacial Syndrome |
|
Short neck, Renal cyst, Premature graying of hair, Gastroesophageal reflux, Conductive hearing im... |
OMIM:113620 |
Distal 17P13.1 Microdeletion Syndrome |
|
Limited elbow movement, Generalized joint laxity, Protruding ear, Deeply set eye, Limitation of k... |
ORPHA:319171 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Decreased activ... |
OMIM:610505 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination, Hypertelorism, Synophrys, Cafe-au-lait spot, Thi... |
ORPHA:364577 |
Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Small for gestational age, Cataract, Cardiac conduction abnormality, S... |
ORPHA:699 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circulating renin level, Re... |
OMIM:241200 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Pectus excavatum, Secundum atrial septal defect,... |
ORPHA:1439 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Respiratory ... |
OMIM:256050 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
Orofaciodigital Syndrome Type 4 |
|
Hypoplastic toenails, Abnormality of the ear, Subcortical cerebral atrophy, Conductive hearing im... |
ORPHA:2753 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tremor, Hyperhomocystinemia, Cystathioninemia, Abnorma... |
OMIM:277400 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Optic atrop... |
OMIM:612301 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck, Low posterior hairline, Joint hyperflexibility, Disproportionate short... |
ORPHA:1803 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Constipation, Vomiting, Poly... |
OMIM:125800 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Corneal dystrophy, Corneal erosion, Reduced visual acuity, Photophobia, Opacific... |
OMIM:608470 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Constipation, Vomiting, Polydipsia, Failure to thrive, Diabe... |
OMIM:304800 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment, Lumbar hyperlordosis, Sensorineural hearing impairment, Disproportionate shor... |
OMIM:609616 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Diarrhea, Peritonitis, Bloody diarrhea, Hemoglobinuria, Hypertensi... |
ORPHA:90038 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Hyperammonemia, Weight loss, Apathy, Myoclonus, Hyperuricemia, Letha... |
ORPHA:20 |
Vascular Ehlers-Danlos Syndrome |
|
Osteoarthritis, Abnormal pupil morphology, Protruding ear, Abnormality of skin pigmentation, Deep... |
ORPHA:286 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Short neck, Sparse hair, Simple ear, Lumbar hyperlordosis, Hypospadi... |
OMIM:305450 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Shallow orbits, Chronic o... |
OMIM:101200 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Abnor... |
ORPHA:93314 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Short neck... |
ORPHA:233 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Gait ataxia, Depression, Myoclonus, Increased variability in muscle fib... |
ORPHA:70595 |
Oculomaxillofacial Dysostosis |
|
Short stature, Camptodactyly of finger, Corneal opacity, Abnormal eyelash morphology, Sparse or a... |
ORPHA:1794 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Cataract, Elevated circulating creatinine concentration |
OMIM:614376 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Elevated circulating creatine kinase concentration, Tr... |
OMIM:164310 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Increased circulating thyroglobulin level, Lethargy |
ORPHA:226316 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Hyperlordosis, Vitreous floaters, Disproportio... |
OMIM:619698 |
Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Reduced visual acuity, Opacification of the corneal stroma, Cor... |
OMIM:217400 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Myopia, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobu... |
OMIM:614170 |
Senior-Boichis Syndrome |
|
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h... |
ORPHA:84081 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Short stature, Limited elbow movement, Highly arched eyebrow, Limited knee... |
OMIM:615065 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, In... |
ORPHA:309246 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Proptosis, Gastroesophageal reflux, Intrauterine growth retardation |
OMIM:619793 |
Porphyria Cutanea Tarda |
|
Hepatic steatosis, Viral hepatitis, Diabetes mellitus, Hyperpigmentation of the skin, Scarring, H... |
ORPHA:101330 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Inguinal hernia, Myopia, Short stature, Hyperlordosis, Short neck, Abnormal f... |
ORPHA:3218 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Vertebral arch anomaly, Proptosis, Thin b... |
ORPHA:85184 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Severely reduced visual acuity, Corneal dystrophy, Opacification of the co... |
OMIM:271310 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:99880 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Tremor, Rhabdomyolysis, Myopathy, Hyperbilirubinemia |
ORPHA:713 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Diarrhea, Hypertension, Acute kidney injury |
OMIM:235400 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Keratitis, Deep anterior chamber, Reduced visual acuity, Herpetiform corneal ulceratio... |
ORPHA:137599 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat... |
OMIM:613810 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Corneal opacity, Joint stiffness, ... |
ORPHA:584 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Hypotelorism, Premature graying of hair, ... |
OMIM:194050 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Bowe... |
OMIM:616482 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Weight loss, Apathy, Dystonia |
OMIM:168605 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Blindness, Hyperthyroidism, Hyperparathyroidism, Elevated circulating ... |
OMIM:174800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Anhidrosis, Decreased nerve conduction ve... |
OMIM:201300 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
Syndromic Diarrhea |
|
Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplas... |
ORPHA:84064 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Hypertelorism, Radial club hand, Proptosis, Low-set ears, Cyclopia |
ORPHA:2165 |
Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Abnormal... |
OMIM:309000 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Barrel-sha... |
OMIM:143095 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... |
OMIM:601214 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Nyctalopia, Flexion contractu... |
OMIM:619321 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoo... |
OMIM:615751 |
O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... |
ORPHA:99965 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Bradykinesia, Choreoathet... |
OMIM:618877 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Neonatal hypoglycemia, Car... |
OMIM:130650 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Oste... |
ORPHA:2848 |
Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive |
ORPHA:427 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary... |
ORPHA:1071 |
Scrub Typhus |
|
Tremor, Lethargy |
ORPHA:83317 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hyperammonemia, Hyperglycinemia, Lethargy, Failure to thrive |
OMIM:251110 |
Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia, Hypertonia, Hyperammonemia |
OMIM:253270 |
Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps... |
OMIM:611131 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Reduced visual acuity, Hypo... |
OMIM:614072 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Peroxisome Biogenesis Disorder 9B |
|
Constriction of peripheral visual field, Cataract, Sensorineural hearing impairment, Nyctalopia, ... |
OMIM:614879 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis |
OMIM:162370 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Depression |
ORPHA:79095 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Vomiting, Sparse hair, Juvenile cataract, Hypopigmentation of the skin, Calcinosis, S... |
ORPHA:221016 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Hypoplasia of the iris, Hypopigmentation of... |
OMIM:609049 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Bradykinesia, Spastic dysarthria, Blepharospasm, Oculomotor apraxia, Distal low... |
ORPHA:240094 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Sensorineural hearing impairment, Upper airway obstruction, High myopia, Proptosis |
ORPHA:440354 |
Charge Syndrome |
|
Hemivertebrae, Abnormality of vision, Hypoplasia of the semicircular canal, Gastroesophageal refl... |
ORPHA:138 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Hypoplasia of penis, Myopia, Corneal opacity, Camptodactyly of finge... |
ORPHA:920 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Gastroesophageal reflux, Hypopl... |
OMIM:188400 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu... |
OMIM:309300 |
Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension, Hypophosphatemia, Azotemia, Anterior polar cataract, Lenticonus |
OMIM:104200 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaired renal concen... |
ORPHA:89938 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, Lethargy, Failure to thrive |
ORPHA:199299 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... |
ORPHA:29073 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy |
ORPHA:90673 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or abse... |
ORPHA:1234 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Diabetes mellitus, Hypogonadotropic hypogon... |
OMIM:241080 |
Cole-Carpenter Syndrome |
|
Short stature, Abnormal dental enamel morphology, Recurrent fractures, Kyphosis, Abnormal form of... |
ORPHA:2050 |
Pettigrew Syndrome |
|
Aggressive behavior, Sensorineural hearing impairment, Flexion contracture, Optic atrophy, Reduce... |
OMIM:304340 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Nausea, Abnormal circulating renin, Intracranial hemorrhage, Hype... |
ORPHA:403 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Tremor, Paraplegia, Depression, Hypertonia, Hyperphenylalaninemia, Hemi... |
ORPHA:79254 |
Oculoauricular Syndrome |
|
Ultra-low vision with retained light perception, Sclerocornea, Microcornea, Iris cyst, Chorioreti... |
OMIM:612109 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Short neck, Renal cyst, Macular degeneration, Hepa... |
OMIM:266920 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lact... |
OMIM:619167 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S... |
ORPHA:79083 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Fine hair, Weight loss, ... |
ORPHA:2221 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Inguinal hernia, Keratitis, Hypertension, Recurrent corneal erosions, Opacification ... |
OMIM:308205 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Stiff-Person Syndrome |
|
Tachycardia, Lumbar hyperlordosis, Diabetes mellitus, Hyperhidrosis, Hypertension, Proximal limb ... |
OMIM:184850 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Low-set, posteriorly rotated ears, Barrel-shaped chest, Lumbar hyperlordosis, Poste... |
ORPHA:171866 |
Steel Syndrome |
|
Lumbar hyperlordosis, Short stature, Hypertelorism, Sensorineural hearing impairment, Scoliosis, ... |
OMIM:615155 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodac... |
ORPHA:391474 |
Hypomandibular Faciocranial Dysostosis |
|
Craniosynostosis, Optic disc coloboma, Proptosis, Low-set ears, Atrial septal defect |
ORPHA:1790 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Generalized hyperpigmentation, Hypospadias, Aganglionic megacolon, Epi... |
ORPHA:3339 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... |
ORPHA:98908 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:79126 |
Hydranencephaly |
|
Blindness, Stiff neck, Optic nerve hypoplasia, Postnatal growth retardation, Dilatation of the ve... |
ORPHA:2177 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, ... |
ORPHA:79284 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hypertelorism, Visual loss, Limitation of joint mobility, Proptosis, Atresi... |
ORPHA:93259 |
Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Small for gestational age |
ORPHA:391673 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse ... |
ORPHA:424 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia, Generalized... |
OMIM:602668 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Blindness, Optic atrophy, Proximal amyotrophy, Spinocerebellar atrop... |
ORPHA:95433 |
Faciocardiorenal Syndrome |
|
Hypertelorism, Horseshoe kidney, Protruding ear, Tricuspid valve prolapse, Endocardial fibroelast... |
ORPHA:1973 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... |
ORPHA:2072 |
Catel-Manzke Syndrome |
|
Joint laxity, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Short n... |
OMIM:616145 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Myopia, Hepatomegaly, Cataract, Short stature, Hyperlordosis, Cerebral atroph... |
OMIM:615356 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Dipl... |
ORPHA:254854 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Posteriorly rotated ear... |
ORPHA:163979 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Ph... |
OMIM:619649 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ... |
OMIM:217300 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Polymyositis |
|
Weight loss, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology |
ORPHA:732 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Proteinuria, Short stature, Cor pulmonale, Macronodular cirrhosis, Nep... |
OMIM:215250 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Ectopic posterior pituitary, Short neck, Bilateral rena... |
ORPHA:508488 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Lumbar hyperlordosis, Premature osteoarthritis, Short stature |
OMIM:165800 |
Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
Xp22.3 Microdeletion Syndrome |
|
Myopia, Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Opacification of the corneal... |
ORPHA:1643 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo... |
ORPHA:2348 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Cherubism |
|
Constriction of peripheral visual field, Optic neuropathy, Macular scar, Reduced visual acuity, P... |
OMIM:118400 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentati... |
ORPHA:1797 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural... |
ORPHA:93474 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Compulsive behaviors, Muscle fiber atrophy, Decreased a... |
ORPHA:2388 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Failure to thrive, Proptosis |
OMIM:242500 |
Yellow Fever |
|
Shock, Low back pain, Renal insufficiency, Anuria, Acute pancreatitis, Supraventricular arrhythmi... |
ORPHA:99829 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Short stature, Anterior pituitary hypoplasia, Hype... |
ORPHA:264200 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Myopathy, Unilateral cryptorchidism, Centrally nucleated skeletal muscl... |
OMIM:300219 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Narrow vertebral interp... |
OMIM:250250 |
Dyskeratosis Congenita |
|
White hair, Hyperhidrosis, Premature graying of hair, Sparse hair, Intrauterine growth retardatio... |
ORPHA:1775 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Primary Hyperoxaluria |
|
Choroidal neovascularization, Calcium oxalate nephrolithiasis, Heart block, Generalized osteoscle... |
ORPHA:416 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Hyperactivity, Short ... |
OMIM:251260 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Hypoplastic... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Hypoplastic... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Hypoplastic... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Hypoplastic... |
ORPHA:881 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Clonus, Tremor, Type 1 fibers r... |
OMIM:619424 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Abnormal pulmonary valve morphology, Craniosynostosis, Reduced bone mineral ... |
ORPHA:667 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasi... |
ORPHA:238468 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disease, Visual impairm... |
ORPHA:650 |
Alpers-Huttenlocher Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:726 |
Microphthalmia With Brain And Digit Anomalies |
|
Myopia, Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Sensorineural hearing impairme... |
ORPHA:139471 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Short stature, Delayed epiphyseal oss... |
ORPHA:79106 |
Congenital Microcoria |
|
Blindness, Axial myopia, Iris hypopigmentation, Nyctalopia, Developmental cataract, Photophobia, ... |
ORPHA:566 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Delayed CNS myelination, Optic nerve dysplasia, Obesity, Cerebral atrophy, Hypermetropia, Reduced... |
OMIM:617296 |
Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Proptosis, Calcaneonavicular fusion, Craniosynostosis |
OMIM:123150 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Persistent pupillary ... |
ORPHA:79414 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology, Reduced visual acuity... |
ORPHA:293621 |
Medulloblastoma |
|
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... |
ORPHA:616 |
Meningococcal Meningitis |
|
Lethargy, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Craniosynostosis, Short neck, Sclerocornea, Obesity, Aniridi... |
ORPHA:251038 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Generalized joint laxity, Lumbar hyperlordosis, Short stature |
OMIM:609325 |
Melas |
|
Bipolar affective disorder, Abnormal central motor function, Ataxia, Ragged-red muscle fibers, De... |
ORPHA:550 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Myopia, Epistaxis, Albinism, Silver-gray hair, Myopic... |
OMIM:614077 |
Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Blindness, Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Abnormality of the cervical spine, Abnormality of the vertebral spinous process... |
ORPHA:1299 |
Trichinellosis |
|
Facial palsy, Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy |
ORPHA:863 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Conductive hearing impairment, Micropenis, S... |
OMIM:201750 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Increased muscle glycogen content, Hyperurice... |
OMIM:232800 |
Biotinidase Deficiency |
|
Lethargy, Alopecia, Ataxia, Hyperammonemia |
OMIM:253260 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Sensorineural hearing impairment, Abnormal Descemet... |
ORPHA:293603 |
Dengue Fever |
|
Lethargy, Hypoproteinemia |
ORPHA:99828 |
Renal Coloboma Syndrome |
|
Myopia, Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dyspl... |
ORPHA:1475 |
Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Blindness, Scarring, Scarring alopecia of scalp, Splenomegaly, Loss of eyelashes, Ost... |
ORPHA:95159 |
Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
Menkes Disease |
|
Intracranial hemorrhage, Hernia, Sparse hair, Intrauterine growth retardation, Osteoporosis, Join... |
ORPHA:565 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Buphthalmos, Anterio... |
OMIM:269400 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Alopecia, Linear hyperpigmentation, Ventricular septal defect, Sclerocornea... |
OMIM:613001 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Tricuspid regurgitation, Impulsivity, Abnormality of ... |
ORPHA:73223 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Visual loss, Nyctalopia, Abnormal Descemet membrane morphology, Abnormal corneal... |
ORPHA:98974 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty... |
OMIM:208150 |
Neu-Laxova Syndrome 2 |
|
Cataract, Hypertelorism, Short neck, Proptosis, Low-set ears, Scoliosis, Intrauterine growth reta... |
OMIM:616038 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Anorexia, Right ventricular failur... |
ORPHA:100085 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thoracic platyspondyly, Syno... |
OMIM:619636 |
Jackson-Weiss Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:1540 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... |
ORPHA:99819 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Knee flexion contracture, Shallow orbits, Sparse hair, Atrial septal defect, Wrist fl... |
OMIM:268300 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Elevated circu... |
ORPHA:206572 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Tachycardia, Small for gestational ag... |
OMIM:609152 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Decreased muscle mass, Hyperactivity, Hyperpigmentation of the skin, Urinary incontin... |
OMIM:234200 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Cataract, Abnormal fingernail morphology, Adrenal hyperplasia, Prim... |
ORPHA:3453 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... |
OMIM:619339 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Sh... |
OMIM:612813 |
Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Blindness, Anterior subcapsular cataract, Cataract, Posterior cortical catara... |
ORPHA:67036 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Le... |
OMIM:615530 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Blindness, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Weight loss, Tubulointers... |
ORPHA:79078 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Abnormal activity of mitochondrial respiratory chain, Tetr... |
OMIM:617186 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar... |
OMIM:604229 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Short stature, Sensorineural hearing impairment, Growth delay, Proptosis |
OMIM:604804 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Kyphosis, Dilatation of the renal pelvis, Interstitial emphysema, Bronchiecta... |
OMIM:619708 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Opacifica... |
ORPHA:461 |
Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:275350 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary, Optic nerve hypoplasia, Sagittal craniosynostosis, Hypertelorism, Pr... |
OMIM:600775 |
Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hyperpigmented streaks, Renal c... |
OMIM:601803 |
Neu-Laxova Syndrome 1 |
|
Cataract, Renal agenesis, Ventricular septal defect, Short neck, Absent eyelashes, Hypertelorism,... |
OMIM:256520 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Hypospadias, Optic nerve hypoplasia, Short statu... |
OMIM:206900 |
Monosomy 13Q14 |
|
Cataract, Short stature, Short neck, Hypertelorism, Protruding ear, Low-set ears, Thickened helic... |
ORPHA:1587 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Senior-Loken Syndrome 3 |
|
Polyuria, Visual loss, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Ne... |
OMIM:606995 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... |
OMIM:600785 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Short stature, Optic disc coloboma, Opacification of the corneal... |
OMIM:169550 |
Acute Lung Injury |
|
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... |
ORPHA:178320 |
Idiopathic Camptocormia |
|
Myositis, Parkinsonism, Elevated circulating creatine kinase concentration, Fatty replacement of ... |
ORPHA:1320 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
Turnpenny-Fry Syndrome |
|
Gastroesophageal reflux, Conductive hearing impairment, Atrial septal defect, Lumbar hyperlordosi... |
OMIM:618371 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Renal salt wasting, Nephrocalcinosis, Vomiting, Increased circul... |
OMIM:601678 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Delayed CNS myelination, Posteriorly rotated ears, Ventricular septal defect, Corneal opacity, Hy... |
OMIM:608670 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Hypertelorism, Posterior subcapsula... |
OMIM:271510 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Sclerocornea, Visual loss, Cryptorch... |
ORPHA:77298 |
Elsahy-Waters Syndrome |
|
Thick eyebrow, Cataract, Hypospadias, Posteriorly rotated ears, Hypertelorism, Pectus excavatum, ... |
OMIM:211380 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Disproportionat... |
OMIM:271650 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Microcornea, Chorioretinal coloboma, Self-mutilation, Iris coloboma, Lumba... |
OMIM:309800 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio... |
OMIM:617156 |
Familial Pterygium Of The Conjunctiva |
|
Abnormality of vision, Opacification of the corneal stroma |
ORPHA:2989 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, ... |
ORPHA:2908 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Myopic astigmatism, Absent foveal reflex, ... |
OMIM:216900 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Photophobia, Hyperk... |
ORPHA:79431 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Blindness, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Cataract, Abnormal location of the eyebrow, Optic nerve hypoplasia, ... |
ORPHA:141099 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Multicentric ... |
OMIM:223800 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Diabetes mellitus, Paraspinal muscle hypertrophy, Hyperhidrosis, Hypothyroi... |
ORPHA:3198 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Brittle hair, Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Decreased activ... |
OMIM:124000 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Inguinal hernia, Sacral dimple, Posteriorly rotated ears,... |
OMIM:180700 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Low-set ears, Opacification ... |
OMIM:251290 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De... |
OMIM:177170 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Osteosclerosis of ribs, Irregular vertebral endplates, Platyspondy... |
ORPHA:174 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop... |
ORPHA:999 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Blindness, Scarring, Increased connective tissue, Scarring alopecia of scalp, Splenom... |
ORPHA:79277 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Low posterior hairline, Myopathy, Hyperbiliru... |
OMIM:611881 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Lower limb amyotrophy, E... |
OMIM:300257 |
Dyschondrosteosis-Nephritis Syndrome |
|
Proteinuria, Short stature, Corneal opacity, Hematuria, Mesomelic short stature, Nephropathy, Int... |
ORPHA:1765 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Hypospadias, Short stature, Congenital diaphragmatic hern... |
OMIM:309801 |
Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Large for gestational age, Short neck, Renal cys... |
OMIM:229850 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Diplopia, Panhypopituitarism, Reduc... |
ORPHA:91351 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Nausea, Increased urinary potassium, Glucocortocoid-insensitive p... |
ORPHA:231580 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Ectopic kidney, Pectus excavatum, ... |
ORPHA:1519 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid... |
OMIM:184100 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Thoracic scoliosis, Abnormal pinna morphology, Camptodactyly of fi... |
ORPHA:1692 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Hypertelorism, Band keratopathy, Vertigo, Reduced v... |
OMIM:614195 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process... |
OMIM:615222 |
Atelosteogenesis, Type I |
|
Rhizomelia, Short neck, Thoracic platyspondyly, Hypertelorism, Cryptorchidism, Fused cervical ver... |
OMIM:108720 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal guttata, Corneal opacity, Visual impairment |
OMIM:613267 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness, Opacification of the corneal stroma |
OMIM:204850 |
Tyrosinemia Type 2 |
|
Corneal opacity, Visual loss, Hyperhidrosis, Photophobia, Hyperkeratosis, Palmoplantar keratoderm... |
ORPHA:28378 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Short neck, Bilateral cryptorchidism, Flexion contracture, Pterygium, Micropenis,... |
OMIM:263650 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Right ventricular hypertrophy |
ORPHA:1329 |
Mietens Syndrome |
|
Severe short stature, Corneal opacity, Cataract, Sclerocornea, Joint stiffness, Microcornea, Elbo... |
ORPHA:2557 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Pfeiffer Syndrome Type 1 |
|
Hypertelorism, Proptosis, Low-set ears, Bicoronal synostosis, Hearing impairment |
ORPHA:93258 |
Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ... |
OMIM:610256 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
Satoyoshi Syndrome |
|
Short stature, Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Sparse or... |
ORPHA:3130 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Decreased activity of mitochondrial complex IV, Babinski sign, D... |
OMIM:616539 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Neurodegeneration, Abnormal autonomic ... |
OMIM:300894 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Elevated circulating creatinine concentration, Myocardial infarction, ... |
OMIM:274150 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Flexion contr... |
ORPHA:99027 |
Fraser Syndrome 1 |
|
Absent eyebrow, Blindness, Hypospadias, Abnormal pinna morphology, Corneal opacity, Renal hypopla... |
OMIM:219000 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Atrial septal defect, Cataract, Small for gestational age, Short stature, Scle... |
OMIM:619869 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Limited elbow extension, Disproportionate ... |
OMIM:146000 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Hypospadias, Abnormal dental enamel morphology, Tarsal synostosi... |
ORPHA:85199 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Propto... |
OMIM:602482 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Flexion contracture, Oromotor apraxia, Depression, Apathy, Limb ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Flexion contracture, Oromotor apraxia, Depression, Apathy, Limb ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Flexion contracture, Oromotor apraxia, Depression, Apathy, Limb ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Flexion contracture, Oromotor apraxia, Depression, Apathy, Limb ... |
ORPHA:93924 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Delayed CNS myelination, Short stature, Shoulder muscle ... |
OMIM:274000 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Myopia, Hypopigmentation of hair, Albinism, Absent skin pigmentation, Wh... |
OMIM:203100 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Decreased activity of mitochondrial ATP synthase complex, Ataxia, Small for gestational age, Trem... |
OMIM:614052 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Short stature, Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Developmental glauco... |
ORPHA:1064 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Phot... |
ORPHA:293381 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Thick hair, Short stature, Tachypnea, Central retinal vessel vascular tortuosity, Protrudi... |
ORPHA:2751 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal os... |
OMIM:602557 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Retinal ... |
OMIM:221900 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Schwannoma, Cardiac ... |
OMIM:160980 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Gout, Hypertension, Hyperuricemia, Hypotension |
OMIM:174000 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hemiparesis, Lethargy, Failure to thrive |
OMIM:620233 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Intestinal obstruction, Aganglionic megaco... |
ORPHA:3440 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Humeroradial synostosis, Aplasia/Hypoplasia of t... |
ORPHA:2879 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Cataract, Rhizomelia, Platyspondyly, Proptosis, Neonatal short-li... |
ORPHA:50945 |
Cancer-Associated Retinopathy |
|
Vitritis, Photophobia, Pancreatic adenocarcinoma, Retinal atrophy, Thymoma, Paracentral scotoma, ... |
ORPHA:71505 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Pectus excavatum, Hypoplasia of the odontoid process, Hypertelorism, Recurrent pneumo... |
OMIM:271665 |
Tay-Sachs Disease |
|
Aspiration, Cherry red spot of the macula, Blindness |
OMIM:272800 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Protruding ear, Bilat... |
ORPHA:69085 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, A... |
ORPHA:64752 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Lim... |
OMIM:620327 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... |
OMIM:603041 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Cryptorchidism, Hypohidrosis, Palmoplantar keratoderma, Opacification of the... |
OMIM:308100 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating ability, Sta... |
OMIM:610188 |
Cirrhosis, Familial |
|
Lethargy, Increased level of propylene glycol in blood |
OMIM:215600 |
Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Corneal opacity, Splenomegaly, Visual impairment |
ORPHA:79292 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial septal defect, Joint laxity, E... |
OMIM:613795 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Weight loss, Periodic paralysis |
OMIM:613239 |
Presynaptic Congenital Myasthenic Syndromes |
|
Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Ataxia, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis mult... |
ORPHA:590 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Abnormal pinna morphology, Congenital diaphragmatic hernia, Hypertelorism, Pectu... |
OMIM:614437 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Productive cough, Diffuse alveolar hemorrhage, Vertigo, Weight loss, Hematur... |
ORPHA:520 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy |
OMIM:159400 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Posteriorly rotated ears, Short stature, Cataract, Kyphosis, Crypto... |
OMIM:300960 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Achondroplasia |
|
Respiratory distress, Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Generalized joint ... |
OMIM:100800 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Ataxia |
OMIM:530000 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Sacral dimple, Hypospadias, Posteriorly rotated ears, Hypertelorism, E... |
ORPHA:2211 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Cataract, ... |
ORPHA:564 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Palmoplant... |
ORPHA:3353 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Polydipsia, Decr... |
OMIM:613677 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
Limb Body Wall Complex |
|
Ventral hernia, Ventricular septal defect, Abnormality of the kidney, Congenital diaphragmatic he... |
ORPHA:2369 |
Teratoma, Pineal |
|
Polydipsia, Polyuria, Diplopia |
OMIM:273120 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... |
ORPHA:2884 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision... |
ORPHA:83461 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Freckling, Sensorineural hearing impairment, Hypopigmented skin patches... |
ORPHA:3214 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:168600 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ... |
OMIM:156500 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Short stature, Recurrent fractures, Rhizomelia, Multiple prenatal fractures, Hearing ... |
OMIM:610682 |
Meester-Loeys Syndrome |
|
Short stature, Hypertelorism, Cervical spine instability, Mitral valve prolapse, Proptosis, Campt... |
OMIM:300989 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Per... |
ORPHA:167 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Brittle hair, Congenital diaphragmat... |
OMIM:305600 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Disproportionate s... |
OMIM:608728 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Camptodactyly of finger, Hearing impairment, Abnormal preputium morph... |
ORPHA:2907 |
Pfeiffer Syndrome |
|
Short stature, Hyperlordosis, Hypertelorism, Short neck, Synostosis of carpal bones |
ORPHA:710 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Hyperbilirubinemia, Increased circulating thyroglobulin level, Lethargy |
OMIM:218700 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig... |
ORPHA:98795 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Splenomegaly, Diarrhea, Chronic diarrhea, Vertigo, Nyctalopia, Hepatosplenomeg... |
OMIM:260920 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Optic atrophy, Cerebral atrophy, Neurodegeneratio... |
OMIM:610217 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Blindness, Subarachnoid hemorrhage, Hematuria, Melena, Intracranial ... |
ORPHA:853 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... |
ORPHA:168572 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Inguinal hernia, Spontaneous pneumothorax, Bicuspid aortic valve, Craniosynostosis,... |
OMIM:610168 |
Fructose-1,6-Bisphosphatase Deficiency |
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Lethargy |
OMIM:229700 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex |
ORPHA:75508 |
Acquired Central Diabetes Insipidus |
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Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Joint laxity, Lumbar hyperlordosis, Obesity, Hypermetropia, Recurrent otitis media, Disproportion... |
OMIM:250420 |
Oculocutaneous Albinism Type 3 |
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White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula... |
OMIM:613154 |
Corneodermatoosseous Syndrome |
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Severe short stature, Abnormal fingernail morphology, Abnormal dental enamel morphology, Corneal ... |
ORPHA:3194 |
Non-24-Hour Sleep-Wake Syndrome |
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Blindness, Abnormal pineal melatonin secretion |
ORPHA:73267 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Overweight, Macroglossia, Abnormal circulating thyroglobulin level, Lethargy |
ORPHA:226307 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
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Synophrys, Protruding ear, Low-set ears, Short neck |
OMIM:301091 |
Microphthalmia, Isolated 2 |
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Opacification of the corneal stroma |
OMIM:610093 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Familial Infantile Myoclonic Epilepsy |
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Cerebellar atrophy, Proptosis |
ORPHA:352582 |
Fish-Eye Disease |
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Opacification of the corneal stroma |
OMIM:136120 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, Premature grayi... |
ORPHA:79477 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hyperpigmentation, Short stature, Premature graying of hair, Nail ... |
ORPHA:3322 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Myopia, Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventric... |
OMIM:300952 |
Granular Corneal Dystrophy Type Ii |
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Subepithelial corneal opacities, Central opacification of the cornea, Blurred vision, Reduced vis... |
ORPHA:98963 |
Mucolipidosis Iii Alpha/Beta |
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Aortic regurgitation, Short stature, Craniosynostosis, Hyperopic astigmatism, Scoliosis, Opacific... |
OMIM:252600 |
Tangier Disease |
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Peripheral axonal neuropathy, Corneal opacity, Hepatosplenomegaly, Facial diplegia, Nail dystroph... |
ORPHA:31150 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Decreased testicular size, Multicystic kidney dysplasia, Blindness, Optic nerve dysplasia, Retina... |
OMIM:615287 |
Pearson Marrow-Pancreas Syndrome |
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Lethargy, Failure to thrive, Small for gestational age, Hyperbilirubinemia |
OMIM:557000 |
Helix Syndrome |
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Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo... |
OMIM:617671 |
Lathosterolosis |
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Abnormal thoracic spine morphology, Hypoplasia of penis, Cataract, Hepatomegaly, Intrahepatic cho... |
ORPHA:46059 |
Sympathetic Ophthalmia |
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Papilledema, Alopecia, Retinal detachment, Cataract, Poliosis, Vitreous floaters, Vitritis, Retin... |
ORPHA:79098 |
Phace Syndrome |
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Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Hypothyroidism, Lens coloboma, Abnorma... |
ORPHA:42775 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Splen... |
ORPHA:163746 |
Niemann-Pick Disease Type C |
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Axial dystonia, Lower limb spasticity, Speech apraxia, Bipolar affective disorder, Ataxia, Dyston... |
ORPHA:646 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
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Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
Musk, Inability To Smell |
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Blindness |
OMIM:254150 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Polyuria, Pericardial effusion, Cryptorchidism, Elevated circulating thyroid-stimulating hormone ... |
OMIM:618183 |
Diamond-Blackfan Anemia |
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Small for gestational age, Lethargy, Low anterior hairline, Abnormality of the thenar eminence |
ORPHA:124 |
Aica-Ribosiduria |
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Congenital blindness, Low-set ears |
ORPHA:250977 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic ... |
OMIM:617821 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Elevated circulating creatine kinase concentration, Hyperlipidemia, Increased muscle lipid conten... |
ORPHA:565612 |
Parkinson Disease 21 |
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Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Granular Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Central opacification of the cornea, Abnormal corneal epithelium... |
ORPHA:98962 |
Autosomal Dominant Polycystic Kidney Disease |
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Hypertension, Elevated circulating creatinine concentration, Mitral valve prolapse |
ORPHA:730 |
Retinitis Pigmentosa 45 |
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Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
Cogan Syndrome |
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Aortic regurgitation, Abnormal vestibular function, Blindness, Keratitis, Vertigo, Sensorineural ... |
ORPHA:1467 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Craniosynostosis... |
OMIM:609192 |
Ebola Hemorrhagic Fever |
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Lethargy |
ORPHA:319218 |
Fraser Syndrome |
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Omphalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia... |
ORPHA:2052 |
Acromesomelic Dysplasia 1 |
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Joint laxity, Lumbar hyperlordosis, Short nail, Ovoid vertebral bodies, Disproportionate short st... |
OMIM:602875 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Inguinal hernia, Hypoplasia of penis, Blindness, Cataract, Amblyopia, Visual loss, Cryptorchidism... |
ORPHA:2250 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:613090 |
Sponastrime Dysplasia |
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Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... |
ORPHA:93357 |
Pyruvate Dehydrogenase E2 Deficiency |
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Peripheral visual field loss, Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Platyspondyly, Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
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Distal amyotrophy, Loss of eyelashes, Basal lamina onion bulb formation, Demyelinating peripheral... |
ORPHA:2821 |
Enhanced S-Cone Syndrome |
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Cataract, Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Reti... |
OMIM:268100 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Small hypothenar eminence, Short stature, 4-5 metacarpal synostosis, Aplasia of the epiglottis, P... |
OMIM:268305 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl... |
ORPHA:1900 |
Isolated Exencephaly |
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Anterior pituitary hypoplasia, Maternal diabetes, Proptosis, Low-set ears, Posterior pituitary ag... |
ORPHA:563612 |
Kosaki Overgrowth Syndrome |
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Proptosis, Thoracolumbar scoliosis, Scoliosis |
OMIM:616592 |
Lathosterolosis |
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Cataract, Bilobate gallbladder, Lumbosacral meningocele, Intrahepatic cholestasis, Osteoporosis, ... |
OMIM:607330 |
Craniosynostosis And Dental Anomalies |
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Papilledema, Stapes ankylosis, Short stature, Absent malleus, Sagittal craniosynostosis, Hypertel... |
OMIM:614188 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr... |
ORPHA:1578 |
Secondary Non-Traumatic Avascular Necrosis |
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Addictive alcohol use, Limitation of joint mobility, Abnormality of connective tissue, Rheumatoid... |
ORPHA:399180 |
Plasminogen Deficiency, Type I |
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Conjunctivitis, Blindness, Nephritis, Nephrolithiasis |
OMIM:217090 |
Juvenile Xanthogranuloma |
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Visual loss, Hyphema, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots |
ORPHA:158000 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Photophobia, Punctate opacification of the cornea, Recurrent corneal erosi... |
ORPHA:98969 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated... |
ORPHA:91500 |
Posterior Urethral Valve |
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Lethargy |
ORPHA:93110 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Short stature, Hypertelorism, Widow... |
ORPHA:1974 |
Galactosialidosis |
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Conjunctival telangiectasia, Severe short stature, Hepatosplenomegaly, Opacification of the corne... |
OMIM:256540 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Proteinuria, Retinal pigment epithelial mottling, Rickets, Stage 5 chronic kidney disease, Photop... |
OMIM:219900 |
Acrocapitofemoral Dysplasia |
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Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Short nail, Pectus excavatum, Dispro... |
OMIM:607778 |
Supranuclear Palsy, Progressive, 1 |
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Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Apathy, Retrocollis... |
OMIM:601104 |
Glycine Encephalopathy |
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Lethargy, Hyperglycinemia |
ORPHA:407 |
Pauci-Immune Glomerulonephritis |
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Small vessel vasculitis, Elevated circulating creatinine concentration, Arteritis, Pulmonary hemo... |
ORPHA:93126 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Adrenal hypoplasia, Hypotelorism, Proptosis, Constipatio... |
OMIM:157170 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Langer Mesomelic Dysplasia |
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Mesomelic short stature, Lumbar hyperlordosis |
OMIM:249700 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy, Abnormal urine alpha-ketoglutarat... |
ORPHA:31 |
Multiple Endocrine Neoplasia Type 1 |
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Lethargy, Weight loss, Hypercalcemia, Depression |
ORPHA:652 |
Holoprosencephaly 3 |
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Hypotelorism, Proptosis, Cyclopia, Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Cataract, Rhizomelia, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupilla... |
OMIM:615877 |
Iniencephaly |
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Omphalocele, Renal agenesis, Rhizomelia, Congenital diaphragmatic hernia, Hyperlordosis, Absent v... |
ORPHA:63259 |
Igg4-Related Kidney Disease |
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Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Night Blindness, Congenital Stationary, Type 1B |
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Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Myopia, Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal ... |
OMIM:253280 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scolio... |
OMIM:182210 |
Herpes Simplex Virus Encephalitis |
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Respiratory failure requiring assisted ventilation, Addictive alcohol use |
ORPHA:1930 |
Pineoblastoma |
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Lethargy, Paralysis |
ORPHA:251909 |
Rutherfurd Syndrome |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Wolfram Syndrome 2 |
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Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic ... |
OMIM:604928 |
Microphthalmia, Syndromic 16 |
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Sclerocornea |
OMIM:611038 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Myopia, Lumbar hyperlordosis, Severe short stature, Kyphoscoliosis, Platyspondyly |
OMIM:184253 |
Paroxysmal Nocturnal Hemoglobinuria |
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Decreased serum iron, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Lethargy, R... |
ORPHA:447 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosarcoma, Decreased fumarate hydrat... |
OMIM:150800 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ... |
OMIM:204690 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Friedreich Ataxia 2 |
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Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... |
OMIM:601992 |
Eisenmenger Syndrome |
|
Lethargy, Hyperuricemia, Abnormal B-type natriuretic peptide concentration, Elevated circulating ... |
ORPHA:97214 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Optic neuropathy, Sudden cardiac death, Dyspnea, Tendon x... |
ORPHA:391665 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Vertigo, Lip telangi... |
ORPHA:79280 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma, Blurred vision |
ORPHA:425 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Singleton-Merten Syndrome 1 |
|
Muscle fiber atrophy, High anterior hairline, Tendon rupture, Decreased body weight |
OMIM:182250 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat... |
OMIM:300106 |