Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Kyphoscoliosis,... |
OMIM:609285 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Sensory ataxi... |
ORPHA:101081 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skelet... |
OMIM:610687 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased mot... |
ORPHA:3115 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,... |
OMIM:616668 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Respiratory distress, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Respiratory insufficiency due to muscle weakness, Kyphosis, Optic atrophy, Upp... |
OMIM:617087 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Upper limb ... |
OMIM:605588 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Inability to walk, Ankle clonus, Gait disturbance, Scoliosis, ... |
OMIM:611225 |
Sillence Syndrome |
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Back pain, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbous tips ... |
ORPHA:3168 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Kyphoscoliosis, Inability... |
ORPHA:99950 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Abnormal cortical gyration, Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Fle... |
OMIM:607855 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Distal sensory impairment,... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Distal sensory impairment,... |
OMIM:604563 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Gait ataxia... |
OMIM:180800 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Kyphosis, Distal upper limb amyotr... |
ORPHA:101075 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Failure to thrive, Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Oste... |
ORPHA:96183 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Distal sensory impairment,... |
OMIM:118200 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Broad-bas... |
OMIM:145900 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Respiratory insufficiency, Gener... |
OMIM:614707 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Rigidity, Memory impairment, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Decreased muscle mass, Broad hallux, Kyphoscoliosis, Shuffling gait, Atlantoaxial abnormality, Br... |
ORPHA:3433 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky... |
ORPHA:101078 |
Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocation, Kyphoscol... |
ORPHA:597 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Split hand, Distal sensory impairment,... |
OMIM:607831 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnorma... |
ORPHA:459033 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Kyphoscoliosis, Coxa valga, Vertebral wedging, Platyspondyly, Internal tibial tors... |
OMIM:616583 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Proximal placement of thumb, Short neck, Flexion contracture, Coxa vara, Long hallux, ... |
OMIM:613330 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Hype... |
OMIM:615290 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Difficulty walking, Ataxia, Kyphoscoliosis |
OMIM:616684 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Thickened Achilles tendon, Lim... |
OMIM:203500 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Chorea, Benign Hereditary |
|
Chorea, Dementia, Gait disturbance, Frequent falls |
OMIM:118700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temperature sensation, Impai... |
OMIM:619574 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Flarin... |
OMIM:156530 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili... |
OMIM:616470 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... |
ORPHA:216873 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Proximal amyotrophy, Tip-toe... |
OMIM:617404 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Abnormal auditory evoked pot... |
OMIM:601455 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... |
ORPHA:101109 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Abnormal fibula morphology, G... |
ORPHA:85198 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Inability to walk by childhood/adolesc... |
OMIM:214400 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinova... |
OMIM:618011 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, Scoliosis, Increased ... |
OMIM:616471 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Amyoplasia, Scapular winging, Facia... |
OMIM:181405 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... |
OMIM:255710 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Waddling gait, Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervert... |
ORPHA:99642 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... |
OMIM:617284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Pachygyria, Vertebral fusion, Facial palsy, Hyperlord... |
OMIM:606612 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus... |
ORPHA:3101 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Bil... |
OMIM:619542 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscolio... |
OMIM:208230 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... |
OMIM:612847 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Gait distu... |
ORPHA:99014 |
Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Impaired pain sensation, Kyphosis, Split hand, Unsteady ... |
OMIM:618124 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:604168 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Gait disturbance, Cubitus valgus, Congenital muscular dystrophy, Decrease... |
ORPHA:1875 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Sco... |
ORPHA:37612 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, ... |
OMIM:611890 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Ataxia, Kyphoscoliosis, Short neck, Apnea, Flexion contracture, Small hand, Obe... |
OMIM:300055 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with... |
OMIM:616710 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Brachydactyly, Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Dysmetria, Ankle... |
OMIM:275900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy, Kyphoscoliosis |
ORPHA:300179 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... |
ORPHA:3041 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, F... |
ORPHA:75840 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Rhizomelia, Kyphoscoliosis, Flexion contracture, Flared metaphysis, Respiratory insufficiency, Co... |
OMIM:215100 |
Spinocerebellar Ataxia Type 20 |
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Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... |
OMIM:609223 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Spinocerebellar Ataxia 48 |
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Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... |
OMIM:618093 |
Foxg1 Syndrome |
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Kyphoscoliosis, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Scoli... |
ORPHA:561854 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Waddling gait, Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, ... |
OMIM:184252 |
Brachyolmia Type 1, Hobaek Type |
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Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Spinocerebellar Ataxia 35 |
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Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... |
ORPHA:99956 |
Chst3-Related Skeletal Dysplasia |
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Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the ... |
ORPHA:263463 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Parkinson-Dementia Syndrome |
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Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Essential Fructosuria |
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Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d... |
OMIM:616756 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Kyphosis, Failure to thrive, Ataxia, Facial myokymia |
OMIM:620007 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
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Abnormal metatarsal morphology, Multiple joint dislocation, Abnormal curvature of the vertebral c... |
ORPHA:93360 |
Primary Dystonia, Dyt4 Type |
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Eunuchoid habitus, Respiratory distress, Torticollis, Kyphoscoliosis, Dysdiadochokinesis, Gait di... |
ORPHA:98805 |
Loeys-Dietz Syndrome 6 |
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Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
X-Linked Non Progressive Cerebellar Ataxia |
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Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles... |
OMIM:607155 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
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Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Allan-Herndon-Dudley Syndrome |
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Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... |
ORPHA:59 |
Ichthyosis--Cheek--Eyebrow Syndrome |
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Kyphoscoliosis |
OMIM:146720 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Respiratory in... |
ORPHA:178148 |
Epilepsy, Progressive Myoclonic, 1B |
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Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dystonia 16 |
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Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Schwartz-Jampel Syndrome, Type 1 |
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Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
Spastic Paraplegia 78, Autosomal Recessive |
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Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... |
OMIM:615924 |
Huntington Disease-Like 2 |
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Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Ck Syndrome |
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Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Pachygyria, Slender build, Polymicr... |
ORPHA:251383 |
Ullrich Congenital Muscular Dystrophy 1 |
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Reduced muscle collagen VI, Flexion contracture, Increased laxity of ankles, Muscle fiber necrosi... |
OMIM:254090 |
Rapid-Onset Dystonia-Parkinsonism |
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Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ... |
ORPHA:71517 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones... |
OMIM:618363 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Skeletal muscle atrophy, Optic disc pallor, Ataxia, Anterior rib cupping, Kyphoscoliosis, Short n... |
OMIM:300232 |
Spinocerebellar Ataxia 38 |
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Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscol... |
OMIM:300280 |
Hyperphenylalaninemia, Bh4-Deficient, C |
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Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... |
OMIM:261630 |
Spinocerebellar Ataxia, X-Linked 5 |
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Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
Gm1-Gangliosidosis, Type Iii |
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Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v... |
OMIM:230650 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Respiratory distress, Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated s... |
ORPHA:86812 |
Intellectual Developmental Disorder, X-Linked 111 |
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Unsteady gait, Kyphoscoliosis |
OMIM:301107 |
Autosomal Recessive Spastic Paraplegia Type 53 |
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Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Failure t... |
ORPHA:319199 |
Congenital Myasthenic Syndrome |
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Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... |
ORPHA:98914 |
Cyanide-Induced Parkinsonism-Dystonia |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Myopathy, Centronuclear, 2 |
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Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle... |
OMIM:255200 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Marinesco-Sjogren Syndrome |
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Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Ataxia, Centrally nucl... |
OMIM:248800 |
Cerebrooculofacioskeletal Syndrome 4 |
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Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Rocker bottom foot, Adduct... |
OMIM:610758 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Orofaciodigital Syndrome Xi |
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Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis |
OMIM:612913 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Skeletal muscle atrophy, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Limb joint c... |
OMIM:612079 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... |
OMIM:277720 |
Epilepsy, Progressive Myoclonic, 6 |
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Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment |
OMIM:614018 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Emotional lability, Waddling gait, Inability to walk |
OMIM:616269 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
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Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Urocanase Deficiency |
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Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
Arthrogryposis, Distal, Type 3 |
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Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,... |
OMIM:114300 |
Leukodystrophy, Hypomyelinating, 3 |
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Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis |
OMIM:260600 |
Spastic Paraplegia 46, Autosomal Recessive |
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Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the lower limbs, Spastic ... |
OMIM:614409 |
Wild Type Abeta2M Amyloidosis |
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Arthropathy, Abnormal intervertebral disk morphology, Dysesthesia, Abnormality of the vertebral e... |
ORPHA:85446 |
Spinocerebellar Ataxia 23 |
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Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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Waddling gait, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, ... |
OMIM:612350 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Waddling gait, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f... |
OMIM:618392 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, D... |
ORPHA:48431 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Kyphosis, Abnormal ... |
ORPHA:505652 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Typical Nemaline Myopathy |
|
Short neck, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber predominance, F... |
ORPHA:171436 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidi... |
OMIM:618393 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... |
ORPHA:240103 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Impaired pain sensation, Kyphoscoliosis, Cryptorchidism, Obesity... |
ORPHA:412035 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky... |
OMIM:615084 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Cryptorchidism, Perisylvian polymicrogyria, Optic atrophy, Failu... |
OMIM:600118 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... |
ORPHA:98863 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Kyphoscoliosis, Inability to walk, Macroglossia, Talipes equinovarus, Scoliosis, Camptoda... |
OMIM:616354 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Inability to walk, Elbow fl... |
ORPHA:206546 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98855 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Flynn-Aird Syndrome |
|
Ataxia, Kyphoscoliosis |
OMIM:136300 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Diaphyseal dysplasia, Metaphyseal dysplasia, Failure to thrive, Kyphoscoliosis |
OMIM:614727 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Decreased testicular size |
OMIM:300977 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... |
ORPHA:65759 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... |
OMIM:619028 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... |
ORPHA:98853 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive |
OMIM:618237 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper... |
OMIM:614898 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Inability to walk, Optic atrophy, Choreoathetosis, Joint contracture |
OMIM:617664 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory insufficiency, Kyphoscoliosis |
OMIM:618230 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... |
OMIM:256050 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, At... |
ORPHA:480 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cry... |
OMIM:214150 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger |
ORPHA:3454 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals |
OMIM:277950 |
Atypical Werner Syndrome |
|
Short palm, Skeletal muscle atrophy, Failure to thrive, Premature ovarian insufficiency, Rocker b... |
ORPHA:79474 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Multiple joint... |
OMIM:618291 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis |
ORPHA:2598 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral hei... |
OMIM:616817 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Inability to walk, Flexion contracture, Optic atrophy, Ankle clonus,... |
OMIM:609541 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m... |
OMIM:614856 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... |
ORPHA:93314 |
Dystonia-Deafness Syndrome 1 |
|
Small for gestational age, Femoral retroversion, Kyphoscoliosis, Loss of ambulation, Achalasia |
OMIM:607371 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Cervical spondylosis, Gai... |
ORPHA:199354 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor |
OMIM:620158 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration... |
OMIM:609260 |
Contractural Arachnodactyly, Congenital |
|
Short neck, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Patent ductus ar... |
OMIM:121050 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Kyphoscoliosis, Tip-toe gait, Spastic gait, Impaired vibration sensation... |
ORPHA:447760 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring... |
OMIM:211530 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Kyphoscoliosis, Obesity, Shuffling gait, Macroorchidism |
ORPHA:3077 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Wormian bones, Diaphragmatic eventration, Clinodactyly, Brachydactyly |
OMIM:617808 |
Rahman Syndrome |
|
Cryptorchidism, Talipes equinovarus, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Kyphoscoliosis |
OMIM:615541 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl... |
ORPHA:284984 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Respiratory insu... |
ORPHA:352447 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, ... |
ORPHA:2020 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Small hand, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Kyphoscoliosis, Short neck, Tapered finger, Dyspnea, Elbow flexion cont... |
OMIM:272430 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea, Kyphoscoliosis, Bilateral cryptorchidism, Scissor gait, Loss of ambulation... |
ORPHA:466722 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Kyphoscoliosis, Inability to walk, Flexion contracture, Optic atrophy, Ank... |
OMIM:614222 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Kyphosis, Gait apraxia, ... |
OMIM:312750 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a... |
OMIM:208920 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Irregular vertebral endplates, Abnor... |
ORPHA:1159 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm... |
ORPHA:101 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Talipes equinova... |
OMIM:614815 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Patent ductus arteri... |
OMIM:618658 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Unsteady gait... |
ORPHA:464282 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... |
OMIM:603472 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Flexion contra... |
ORPHA:75496 |
Acrootoocular Syndrome |
|
Small hypothenar eminence, Short metacarpal, Small for gestational age, Abnormal finger flexion c... |
ORPHA:2980 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Cryptorchidism, Shor... |
OMIM:301900 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... |
OMIM:617013 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Dyspnea, Kyphosis, Flexion contracture |
ORPHA:87876 |
Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis |
OMIM:176920 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... |
OMIM:617114 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Myopathy, Scoliosis |
OMIM:618234 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression, Gait ataxia, Bradyki... |
OMIM:137440 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormal autonomic nervous system p... |
OMIM:610743 |
Joint Laxity, Short Stature, And Myopia |
|
Talipes equinovarus, Multiple joint dislocation, Cervical kyphosis, Kyphoscoliosis |
OMIM:617662 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Rocker bottom foot, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis |
OMIM:610756 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis |
OMIM:300915 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth... |
OMIM:617143 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Sandal gap, Kyphosis, Cryptorchidism, Small hand, Simplified gyral ... |
OMIM:300354 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis |
ORPHA:2047 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume ... |
OMIM:108145 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir... |
OMIM:261640 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... |
OMIM:233910 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Neonatal respiratory distress, Increased intervertebral spa... |
OMIM:618961 |
Ane Syndrome |
|
Multiple joint contractures, Hypogonadotropic hypogonadism, Ulnar deviation of the hand, Kyphosco... |
ORPHA:157954 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Bowing of the long bones, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,... |
OMIM:615349 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Kyphosis, Inability to walk, ... |
ORPHA:3095 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Prominent metopic ridge, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Congenita... |
ORPHA:96170 |
Loeys-Dietz Syndrome 3 |
|
Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Paten... |
OMIM:613795 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:1354 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Respiratory insufficiency, Platyspondyly, Talipes equinovarus... |
ORPHA:2771 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... |
ORPHA:280219 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closu... |
OMIM:130060 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spa... |
ORPHA:391417 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Flexion contracture, Congenit... |
ORPHA:115 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Short palm, Clin... |
ORPHA:457395 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Kyphoscoliosis, Short neck, Deviation of the 5th toe... |
ORPHA:391408 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Abnormal thumb morphology, Inability to walk, Contractures of the large joints, S... |
ORPHA:324410 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Limb hypertonia |
ORPHA:500180 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Digeorge Syndrome |
|
Pilonidal sinus, Patent ductus arteriosus, Chronic pulmonary obstruction, Asthma, Obesity, Recurr... |
OMIM:188400 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dementia, Tongue fasciculations, Myoclonus, Difficulty walking, Frequent falls |
OMIM:159950 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Patent ductus arteriosu... |
ORPHA:397709 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Sh... |
OMIM:156550 |
Mcdonough Syndrome |
|
Cachexia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo... |
OMIM:168601 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Failure to thrive in infancy, Rhizomelia, Kyphoscoliosis, Short neck, Broad f... |
OMIM:611209 |
Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave vertebral bodies, Sc... |
OMIM:610968 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de... |
ORPHA:3124 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Gait disturbance, Truncal obesity, Scoliosis |
ORPHA:2429 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Hip dislocation, Spastic gait, Kyphoscoliosis |
ORPHA:101003 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn... |
ORPHA:240071 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Metaphyseal dysplasia, Abnormality of the epiphysis of the femoral head,... |
ORPHA:93316 |
Geroderma Osteodysplasticum |
|
Hyperextensibility of the finger joints, Kyphoscoliosis, Vertebral compression fracture, Femoral ... |
OMIM:231070 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Pachygyria, Slender build, Polymic... |
OMIM:300831 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys... |
ORPHA:447757 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Osteoarthritis, Abnormal ossification... |
ORPHA:2114 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Optic disc pallor, Neonatal respiratory distress, Rocker bottom foot, Kyphoscol... |
OMIM:618947 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Delayed closure of th... |
OMIM:619797 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat... |
OMIM:607483 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... |
OMIM:615547 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Basilar Impression, Primary |
|
Horner syndrome, Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Thoracic scoliosis, Torticollis, Optic nerve hypoplasia, Kyphoscoliosis, Metatars... |
ORPHA:300570 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Crypt... |
OMIM:255995 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Patent ductus arteriosus, Flexion cont... |
OMIM:608149 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocati... |
ORPHA:536467 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, ... |
OMIM:143095 |
Diastrophic Dysplasia |
|
Joint dislocation, Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placem... |
ORPHA:628 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormal lumbar spine morphology, Herniation of intervertebral nuclei, Cervical spondylosis, Abno... |
ORPHA:101005 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Hallux valgus, Genu recurvatum, Recurrent shoulder dislocation, Thoracolumbar ... |
ORPHA:230851 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ... |
OMIM:300894 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Premature ovarian insufficiency, 2-3 toe syndactyly, Scoliosis |
ORPHA:391307 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... |
OMIM:311510 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Dementia, Falls, Cognit... |
ORPHA:683 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Scoliosis, Spina... |
ORPHA:64755 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Craniosyno... |
ORPHA:2953 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... |
OMIM:183090 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis |
ORPHA:329284 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hyperlordosis, S... |
OMIM:314580 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subco... |
ORPHA:157846 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebral c... |
OMIM:616507 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Respiratory insufficienc... |
ORPHA:702 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Arthritis, Joint swel... |
ORPHA:1416 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... |
OMIM:614298 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired proprioception, Gait ... |
ORPHA:88628 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Osteoarthritis, Metaphyseal widening, Short phalanx of finger, G... |
OMIM:177170 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
De Barsy Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Ky... |
ORPHA:2962 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure... |
OMIM:234250 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnorm... |
ORPHA:536471 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Arachnodactyly, Scoliosis |
ORPHA:1548 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ankle clonus,... |
ORPHA:88644 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho... |
OMIM:168600 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Spastic tetraparesis |
OMIM:619470 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Kyphoscoliosis,... |
OMIM:309583 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Radial head subluxation, Short toe, G... |
OMIM:614078 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Pachygyria, Cryptorchidism, Metatarsus ad... |
OMIM:612513 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally ... |
OMIM:620351 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Abnormal form of ... |
ORPHA:812 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Failure to thrive, Broad-based gait, Ataxia, Kyphoscoliosis, Impair... |
ORPHA:14 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Long fingers, Hip dislocation, Pulmonary arterial hype... |
ORPHA:447980 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... |
ORPHA:35173 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... |
OMIM:271510 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Pulmonary embolism |
ORPHA:1345 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Obesity, Tapered finger |
OMIM:619255 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Kyphosis, Cryptorchidism, Congenital contracture, Joint contracture of... |
ORPHA:352490 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger, Cryptorchidism |
OMIM:618512 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Metaphyseal widening, Anterior beaking of lumbar vertebrae, Flaring of rib cage, Wadd... |
OMIM:253000 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment |
ORPHA:79234 |
Larsen-Like Syndrome |
|
Joint dislocation, Kyphoscoliosis, Radial deviation of the 4th finger, Talipes equinovarus, Clino... |
OMIM:608545 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Arachnodactyly, Kyphoscoliosis, Camptodactyly |
OMIM:614846 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Gray matter heterotopia, Hand polydactyly, Scoliosis, Radial deviation of f... |
OMIM:300337 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia, Horner syndrome |
OMIM:141300 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Increased intervertebral ... |
OMIM:607944 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Clinodactyly of the 5th finger |
OMIM:619422 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst... |
OMIM:168605 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... |
OMIM:616840 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Respiratory insufficiency, Scoliosis |
ORPHA:1545 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Obesity, Seco... |
ORPHA:3085 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Punctate vertebral calcifications,... |
OMIM:302960 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Ataxia, Overlapping toe, Kyphoscoliosis, Tapered finger, Rocker bottom foot, Ina... |
ORPHA:488642 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Kyphoscoliosis, Congenital diaphragmatic hernia, Missing ... |
OMIM:200980 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum, Fibular bowing, Scol... |
OMIM:112350 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Shoulder dislocation, Gait disturbance, Scoliosis, Adducted thumb |
ORPHA:2181 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Scoliosis, Biconcave vertebral bodies, Failure to thrive |
OMIM:236200 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar ... |
OMIM:609128 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arthrogryposis mu... |
OMIM:615834 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosis, Obesity, Short foo... |
ORPHA:3409 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, T... |
OMIM:602535 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Limb undergrowth, Joint contracture, F... |
OMIM:618005 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Gait imbalance, Shuffli... |
ORPHA:75567 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp... |
ORPHA:15 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal... |
ORPHA:94065 |
Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Depression |
ORPHA:3375 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Short metatarsal, Small hand, Short foot,... |
OMIM:180870 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior wedging of L2, ... |
OMIM:253200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossifi... |
OMIM:271640 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Optic neuropathy, Kyphoscoliosis, Asthma, Clinodactyly of the 5th finger, Cubitus valgus, Brachyd... |
OMIM:620237 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Brachydactyly, Kyphoscoliosis, Coxa valga, Platyspondyly, Delayed ossifica... |
OMIM:617425 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow ... |
OMIM:183900 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,... |
ORPHA:79254 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abnormal pyramida... |
ORPHA:363400 |
Dental Anomalies And Short Stature |
|
Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di... |
OMIM:601216 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Patel... |
OMIM:114290 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limit... |
ORPHA:94068 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Short neck, Kyph... |
OMIM:301041 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... |
ORPHA:3098 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Short lower limbs |
OMIM:259440 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia o... |
OMIM:607326 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Facial hypotonia, Short neck, Platyspondyly, Thoracic ky... |
ORPHA:85194 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Short toe, Patent ductus arteriosus, Obesity, Widely spaced toes |
ORPHA:404443 |
Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorch... |
OMIM:300602 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Elbow dislocation, Kyphosis, Postaxial hand po... |
ORPHA:2916 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short neck |
OMIM:616455 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Micromelia, Femoral retroversion, Kyphosis, Macroglossia, Scoliosis, Achalasia |
ORPHA:79107 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho... |
OMIM:223800 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due t... |
OMIM:615512 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Simplified gyral pattern, Limb hypert... |
OMIM:615803 |
Monosomy 18P |
|
Brachydactyly, Kyphoscoliosis, Short neck |
ORPHA:1598 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Broad ribs, A... |
ORPHA:583 |
Kagami-Ogata Syndrome |
|
Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis, Large for ge... |
ORPHA:254519 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Kyphoscoliosis |
ORPHA:53721 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Phalangeal d... |
ORPHA:536532 |
Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Amyotrophic lateral sclerosis, Fatty replaceme... |
ORPHA:1320 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger |
ORPHA:1858 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Inability to walk, Recurrent pneumonia, Elbow flexion... |
OMIM:618493 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Partial duplication of thumb phalanx, Cubitus valg... |
OMIM:618348 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Melnick-Needles Syndrome |
|
Short humerus, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coxa valga, Hip dislocat... |
OMIM:309350 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Failure to thrive in infancy, Arachnodactyly, Kyphoscoli... |
OMIM:615582 |
Mevalonic Aciduria |
|
Optic disc pallor, Ataxia, Failure to thrive in infancy, Kyphoscoliosis, Progressive cerebellar a... |
OMIM:610377 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Gm1 Gangliosidosis |
|
Ataxia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus arteriosus, Aplasia/Hypop... |
ORPHA:354 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Kyphosis, Upper limb undergrowth, Lower limb hypertonia, Polydactyly, ... |
OMIM:169400 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Kyphoscoliosis, Patent ductus arteriosus, Atlantoaxial in... |
OMIM:614557 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment |
ORPHA:36387 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteriosus, Respiratory... |
ORPHA:2655 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Kyphoscoliosis, Cryptorchidism, Partial duplication of thumb phalan... |
OMIM:616331 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Kyphosis, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617988 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... |
OMIM:601701 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... |
ORPHA:206594 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia of the capital femor... |
OMIM:313400 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Cryptorchidism, Hemivertebrae, Macroglossia... |
OMIM:301040 |
Alpha-Mannosidosis |
|
Bowing of the long bones, Short neck, Kyphosis, Arthritis, Macroglossia, Scoliosis, Synostosis of... |
ORPHA:61 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Large for gestational age... |
ORPHA:457359 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin... |
ORPHA:1328 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Ataxia, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
Cockayne Syndrome Type 2 |
|
Ataxia, Kyphosis, Cryptorchidism, Flexion contracture, Gait disturbance, Scoliosis, Difficulty wa... |
ORPHA:90322 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Progressive neurologic deterioration |
ORPHA:1192 |
Monosomy 18Q |
|
Arachnodactyly, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, Patent ductus arteriosu... |
ORPHA:1600 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... |
ORPHA:137834 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Clinodactyly of the 5th finger, Kyphoscoliosis |
OMIM:620075 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Patent ductus arteriosus, Abnormality of neuronal migration, Respiratory in... |
ORPHA:93274 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... |
OMIM:616505 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Congenital kyphoscoliosis, Arachnodactyly, K... |
ORPHA:536545 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Obesity, Respiratory insufficiency, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, Scoliosis |
OMIM:252605 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia... |
ORPHA:2828 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Facial hypotonia, Genu recurvatum, Kyphosis, Cryptorchidism, Scoliosis, Abnor... |
ORPHA:364028 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Kyph... |
ORPHA:85293 |
Hajdu-Cheney Syndrome |
|
Kyphoscoliosis, Short neck, Cryptorchidism, Patent ductus arteriosus, Tall lumbar vertebral bodie... |
OMIM:102500 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Ataxia, Hyperlordosis, Coxa valga, Hypoplas... |
OMIM:253010 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Large for gestational age, Flexion contracture, Hemivertebrae, Tibial bowing, Small p... |
ORPHA:96334 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Kyphosis, Unstea... |
ORPHA:3063 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Perisylvian polymicr... |
OMIM:618443 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Spasticity, Tremor, Dystonia |
OMIM:304700 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Short neck, Kyphosis,... |
ORPHA:958 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... |
ORPHA:329478 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Abnormality of the elbow, Abnormal intervertebral disk morphology, Brachydactyly |
ORPHA:2701 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Kyphoscoliosis, Hemivertebrae, Irregular oss... |
OMIM:109400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Abn... |
ORPHA:582 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Kyphoscoliosis, Optic atrophy, Cone-shaped epiphyses of the phalanges of the han... |
OMIM:210730 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... |
ORPHA:1860 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebra... |
OMIM:219090 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de... |
ORPHA:97355 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism |
ORPHA:2617 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Asthma, Short foot, Hypogo... |
ORPHA:500055 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Prominent metopic ridge, Congenital muscular torticollis, Finger syndact... |
ORPHA:2215 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Cryptorchidism, Kyphosis, Po... |
ORPHA:3082 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abn... |
ORPHA:800 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Scoliosis, Wormian bones, Pulmonary arte... |
OMIM:259420 |
Frank-Ter Haar Syndrome |
|
Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... |
OMIM:249420 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus, Respiratory insufficiency, Limb hypertonia |
OMIM:619909 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Scoliosis,... |
ORPHA:2075 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Short neck, Progressive intervertebral space narrowing, ... |
ORPHA:1716 |
Dysosteosclerosis |
|
Delayed closure of the anterior fontanelle, Increased intervertebral space, Optic atrophy, Abnorm... |
OMIM:224300 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Sponastrime Dysplasia |
|
Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses of the phalanges of the han... |
ORPHA:93357 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ataxia, Kyphoscoliosis, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Left v... |
OMIM:300967 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Spatulate ribs, Short neck, Metata... |
OMIM:253220 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphosis, Cryptorchidis... |
ORPHA:3121 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Abnormality of th... |
ORPHA:508533 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Abnormal vertebral morphology, Genu varum, Vertebral hypopl... |
ORPHA:93315 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Low frustra... |
ORPHA:411602 |
Holt-Oram Syndrome |
|
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Patent ductus arteriosus, ... |
ORPHA:392 |
Fucosidosis |
|
Kyphosis, Decreased muscle mass, Failure to thrive, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism, Joint contracture |
OMIM:615381 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity |
OMIM:300957 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tre... |
ORPHA:845 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Torticollis, Congenital diaphragmatic hernia, Kyphosis... |
OMIM:609029 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Apnea, Abnormal cortical gyration, Rocker bottom foot, K... |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Abnormal cortical gyration, Rocker bottom foot, Postaxial polydactyly, Kyphosis, Long fing... |
OMIM:617527 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Proximal placement of thumb, Cryptorchidism |
OMIM:615433 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Repeated pneumothoraces, Cryptorchid... |
OMIM:617602 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Periventricular heterotopia, Kyphosis, Metaphyseal widening, Op... |
OMIM:618476 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Cryp... |
ORPHA:887 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Impaired pai... |
ORPHA:96149 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Osteogenesis Imperfecta, Type Xx |
|
Wormian bones, Vertebral compression fracture, Kyphoscoliosis |
OMIM:618644 |
Wrinkly Skin Syndrome |
|
Decreased muscle mass, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Ky... |
ORPHA:2834 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... |
OMIM:225400 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Bowing of the long bones, Micromelia, Hyperlordosis, Short n... |
ORPHA:1798 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Kyphoscoliosis |
OMIM:163200 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment,... |
OMIM:617675 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Short neck, Kyphosis, Cryptorchidism, Radioulnar synostosi... |
OMIM:248700 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Hypopl... |
ORPHA:56304 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Bilateral cryptorchidism, Pneumothorax, Hip dislocation, Talipes equinovarus, Cam... |
OMIM:617403 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... |
ORPHA:192 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance |
ORPHA:457240 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... |
OMIM:607015 |
Alg1-Cdg |
|
Kyphosis, Respiratory failure, Scoliosis |
ORPHA:79327 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Dementi... |
OMIM:105210 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Ataxia |
ORPHA:324737 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs |
ORPHA:77300 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae |
ORPHA:2522 |
Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Kyphoscoliosis, Short neck, Missing ribs, Cryptorchidis... |
OMIM:151100 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Cryptorc... |
ORPHA:254346 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Irregular menstr... |
OMIM:616482 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Failure to thrive in infancy, Agangl... |
ORPHA:798 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Prominent metopic ridge, Scoliosis |
ORPHA:261144 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Short palm, Syndactyly, Hypoventilation, Hypogonadotropic hypogonadism, Cr... |
OMIM:176270 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Kyphosis, Optic atrophy, Bronchiectasis, Dysmetria, Knee flexion contracture, Interstitia... |
OMIM:619708 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis, Pl... |
OMIM:108300 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Facial palsy, Optic nerve hypoplasi... |
ORPHA:261349 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Aganglionic megacolon, Obesity |
ORPHA:261222 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Fl... |
ORPHA:3042 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... |
OMIM:259770 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Cryptorchidism, Pate... |
OMIM:277590 |
Alexander Disease |
|
Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Chorea, Respiratory insufficiency, Gai... |
ORPHA:58 |
Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis, Abnormal respiratory system physiology, Paresthesia, Cough |
ORPHA:97349 |
Sneddon Syndrome |
|
Mental deterioration, Hemiplegia, Tremor, Impaired distal tactile sensation |
OMIM:182410 |
Marfan Syndrome |
|
Decreased muscle mass, Genu recurvatum, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, A... |
OMIM:154700 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Simplified gyral pattern, Athetosis, Talipes equinovarus, Scoliosis, Aspiration... |
OMIM:613454 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, M... |
ORPHA:97360 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Scapular winging, Sandal gap, Tapered finger, Kyphosis, Patent ductus arterio... |
OMIM:617061 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Brachydactyly, Rhizomelia, Hyperlordosis, Overweight, Kyphos... |
ORPHA:763 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tali... |
ORPHA:573278 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Short thum... |
OMIM:268400 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Kyphosis, Asthma, Flexion contracture, Split hand, Recurrent pneumonia, ... |
OMIM:309900 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short neck, Kypho... |
ORPHA:140 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Hip dislocation, Short neck |
OMIM:608776 |
Cono-Spondylar Dysplasia |
|
Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Kyphosis, Abnormal fo... |
ORPHA:3219 |
Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Small for gestational age, Kyphosis, Cr... |
OMIM:610443 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Ataxia, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Patent ductus ar... |
ORPHA:466791 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Hyperventilation, Kyphosis, Contracture of the proximal interphalangeal joint o... |
OMIM:618050 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Optic atrophy, Dysmetria, Ankle clonus, Lower limb hypertonia, Dysdiadochokinesis, Diff... |
ORPHA:171629 |
Trisomy 13 |
|
Kyphosis, Cryptorchidism, Postaxial hand polydactyly, Optic atrophy, Abnormal rib morphology, Pat... |
ORPHA:3378 |
Cole-Carpenter Syndrome |
|
Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodie... |
ORPHA:2050 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Myopathy, Scoliosis... |
OMIM:162300 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Preaxial hand p... |
ORPHA:261318 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Cryptorchidism, Scoliosis, Failure to thrive |
ORPHA:2115 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormality of neuronal migrati... |
ORPHA:2065 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Rocker bottom foot, Kyphosis, Cryptorchidism,... |
OMIM:619951 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration... |
OMIM:619482 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytopenia |
ORPHA:391673 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/C3 vertebral fusion,... |
OMIM:617190 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Cryptorchidism, Patent ductus arte... |
OMIM:130720 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Mental deterioration, Memory impairment |
ORPHA:79095 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosis, Patent ductus arteriosus, ... |
ORPHA:314588 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral ... |
ORPHA:1005 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Respiratory failure requiring assisted ventilation, Dia... |
ORPHA:576 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Ganglioneuromatosis |
ORPHA:653 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosynostosis, Wormian bo... |
OMIM:616294 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti... |
ORPHA:25 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic vertebral bodies, Long toe, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, 2-... |
ORPHA:3455 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Th... |
ORPHA:2232 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Overlapping toe, Kyphoscoliosis, Bilateral cryptorchidism, Pneumothorax, Knee flexion contracture... |
OMIM:617402 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Ataxia, Arachnodactyly, Congenital diaphragmatic h... |
ORPHA:280 |
Alkaptonuria |
|
Joint dislocation, Cartilage destruction, Osteoarthritis, Arthritis, Joint swelling, Calcificatio... |
ORPHA:56 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st... |
ORPHA:476126 |
3C Syndrome |
|
Finger syndactyly, Missing ribs, Short neck, Kyphosis, Hemivertebrae, Abnormality of neuronal mig... |
ORPHA:7 |
Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptorchidism, Paten... |
OMIM:163950 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus |
ORPHA:676 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Taper... |
ORPHA:464311 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Increa... |
ORPHA:398069 |
Serotonin Syndrome |
|
Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... |
ORPHA:43116 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc c... |
ORPHA:568 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscoliosis, Sagit... |
ORPHA:500150 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Split han... |
OMIM:252500 |
Incontinentia Pigmenti |
|
Optic atrophy, Hemivertebrae, Supernumerary ribs, Kyphoscoliosis |
OMIM:308300 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum |
ORPHA:2479 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Inability to walk, Recurrent pneumonia, Deviation o... |
ORPHA:464738 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Slender finger, Optic atrophy, Obesit... |
OMIM:309580 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, Femoral bowing, Tibia... |
OMIM:610915 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Dementia, Gait disturbance, Decerebrate rigidity, Progressive spa... |
ORPHA:512 |
Cohen Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Tapered finger, Kyph... |
ORPHA:193 |
Neurofibroma |
|
Spinal canal stenosis, Kyphoscoliosis, Abnormal cranial nerve morphology |
ORPHA:252183 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Kyphosis, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, ... |
ORPHA:404440 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Femoral bowing present at birt... |
OMIM:166220 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Kyphoscoliosis, Cryptorchidism, Gray matter heterotopia, Chordee, Polym... |
OMIM:618820 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment |
OMIM:146500 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Multiple joint contractures, Small for gestational age, Arachno... |
ORPHA:464306 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of th... |
ORPHA:2789 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... |
ORPHA:666 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Kyphosis, Cryptorchidism, Cubitus valgus, Clinodactyly, Limited elb... |
OMIM:619745 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Enlarged joints, Small for gestational age, Brachydactyly, Ky... |
ORPHA:2044 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia, Kyphosis, Flexion contra... |
OMIM:212065 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... |
OMIM:607014 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Micro Syndrome |
|
Kyphosis, Cryptorchidism, Optic atrophy, Lissencephaly, Scoliosis, Pachygyria |
ORPHA:2510 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, ... |
ORPHA:2461 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Kyphosis, Asthma, Recurrent pneumonia, Irregular menstruation, Tr... |
OMIM:203800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Neonatal respiratory distress, Impaired pain sensation, Kyphosis, Cryptorchidism, Increased femor... |
OMIM:619005 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, B... |
OMIM:136140 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Kyphosis, Chorea, Arthritis, Platyspondyly,... |
ORPHA:1855 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Cryptorchidism... |
ORPHA:401973 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Periventricular heterotopia, Kyphosis, Crypt... |
ORPHA:261250 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormal rib morphology, Abnor... |
ORPHA:77301 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Brachydactyly, Neonatal respiratory di... |
OMIM:119600 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Sinusitis, Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Genu v... |
ORPHA:363700 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding cocc... |
OMIM:300966 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Patent ductus arteriosus, Dyspnea, Dysmetria, Clinodactyly |
OMIM:620185 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Thrombocytosis, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Vertebral segmentati... |
ORPHA:96169 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Mesome... |
OMIM:616894 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Emotional lability, Irritability, Ataxia |
OMIM:201100 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycemia |
ORPHA:90065 |
Familial Osteodysplasia, Anderson Type |
|
Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Mgat2-Cdg |
|
Respiratory distress, Kyphosis, Patent ductus arteriosus, Scoliosis, Failure to thrive, Brachydac... |
ORPHA:79329 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Short foot, Fused cervical verteb... |
OMIM:157800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis, Pulmonary arterial hypertension |
OMIM:616449 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Simplified gyral pattern, Cryptorchidism |
OMIM:619244 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, Sco... |
OMIM:617011 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr... |
OMIM:614947 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Kyph... |
OMIM:616914 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Cryptorchidism, Broad distal phal... |
OMIM:619194 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Bowing of the long bones, Kyphosis, Lateral femoral bowing, Failure to thrive |
OMIM:239000 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Coronal craniosynos... |
OMIM:603116 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Cryptorchidism, Patent ductus arteriosus, Ri... |
ORPHA:1606 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Cam... |
OMIM:601803 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Patent ductus arteriosus, Flexion con... |
OMIM:275210 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Cachexia, Kyphos... |
ORPHA:828 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow... |
ORPHA:558 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity, Secondary amenorrhea |
OMIM:610489 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Camptodactyly of finger, ... |
ORPHA:1507 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the proximal interp... |
OMIM:618223 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Facial palsy, Kyphosis, Cryptorchidism, Abnormal metacarpal morphology, Abnorm... |
ORPHA:2658 |
Calcification Of Joints And Arteries |
|
Intervertebral disk calcification |
OMIM:211800 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Abnormal distal phalanx m... |
ORPHA:2636 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormal form of the ve... |
ORPHA:818 |
Cockayne Syndrome A |
|
Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity... |
OMIM:216400 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Optic neuropathy, Increased intervertebral space, Optic atrophy, Diaphysea... |
OMIM:619727 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Optic disc pallor, Ataxia, Cachexia, Decrea... |
ORPHA:191 |
Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoepiphyses o... |
OMIM:194190 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Small for... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Hand muscle atrophy, Sacral dimple, Anomaly of lower limb diaphyses, Small for... |
ORPHA:363958 |
Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Tapered finger, Kyphosis, Osteoarthrit... |
ORPHA:314769 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Scoliosis |
OMIM:615108 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemivertebrae, Rib fus... |
OMIM:617140 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Osteoarthritis, Pulmonary arterial hypertension |
ORPHA:77259 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Kyphosis, Flexion contracture, Unsteady gait, Scolios... |
ORPHA:90324 |
Wrinkly Skin Syndrome |
|
Scapular winging, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Hypopla... |
OMIM:278250 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Scoliosis |
OMIM:615109 |
Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl... |
ORPHA:955 |
Acromegaly |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Tapered finger, Kyphosis, Osteoarthrit... |
ORPHA:963 |
Williams-Beuren Syndrome |
|
Hallux valgus, Failure to thrive in infancy, Kyphoscoliosis, Flexion contracture, Obesity, Radiou... |
OMIM:194050 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thr... |
ORPHA:268261 |
Classic Homocystinuria |
|
Arachnodactyly, Pulmonary embolism, Kyphosis, Optic atrophy, Genu valgum, Scoliosis |
ORPHA:394 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Brachydactyly |
ORPHA:201 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hyperglycemia, Diabetes mellitus |
ORPHA:465508 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Cryptorchidism, Long fingers, 2-3 toe syn... |
OMIM:300960 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Orthostatic hypotension, Coxa valga, Kyphosis... |
OMIM:304150 |
Ramon Syndrome |
|
Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis |
OMIM:266270 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Tracheomalacia, Kyphosis, Posterior rib gap, Clinodactyly of the 5... |
ORPHA:1393 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia |
OMIM:609069 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Abnormal finger morphology, Abnormal form of the verte... |
ORPHA:744 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia |
ORPHA:440713 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Cryptorchidism, Optic di... |
OMIM:309800 |
Cockayne Syndrome B |
|
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Cowden Syndrome 1 |
|
Hydrocele testis, Kyphosis, Scoliosis |
OMIM:158350 |
Occipital Horn Syndrome |
|
Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the capital femora... |
ORPHA:198 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Wrist swelling, Kyphosis, Cryptorchidism, Hip disloca... |
OMIM:309000 |
Pmm2-Cdg |
|
Respiratory distress, Multiple joint contractures, Hypogonadotropic hypogonadism, Ataxia, Kyphosc... |
ORPHA:79318 |
Aspartylglucosaminuria |
|
Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of verte... |
OMIM:208400 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, Ap... |
OMIM:135900 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Hypergonadotr... |
OMIM:259050 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Torticollis, Broad-based gait, Ataxia, Overweight, Kyphosis, Obesity, Genu valgum, Abn... |
OMIM:619475 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Patent ductus arteriosus, Chylothorax |
OMIM:153400 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Coronal craniosynostosis, Tarsal synostosis, Delayed cranial suture closure |
ORPHA:85199 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Cryptorchidism, Hip dislocation, Abnormal rib morphology, Respiratory insufficiency, Ge... |
ORPHA:534 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
Williams Syndrome |
|
Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Clinodactyly of ... |
ORPHA:904 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Short neck, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insufficiency, S... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Short neck, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insufficiency, S... |
ORPHA:99228 |
Monosomy X |
|
Short neck, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insufficiency, S... |
ORPHA:99226 |
Turner Syndrome |
|
Short neck, Short 5th metacarpal, Hypermobility of toe joints, Premature ovarian insufficiency, S... |
ORPHA:881 |
Ring Chromosome 7 Syndrome |
|
Prominent crus of helix, Small hand, Genu valgum, Hydrocele testis, Hypogonadism, Lumbar kyphosco... |
ORPHA:1449 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly, Abnormal... |
ORPHA:2273 |
Neurofibromatosis Type 1 |
|
Ataxia, Cryptorchidism, Kyphosis, Genu valgum, Paresthesia, Scoliosis, Genu varum |
ORPHA:636 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... |
OMIM:216340 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Viss Syndrome |
|
Long toe, Recurrent joint dislocation, Arachnodactyly, Rocker bottom foot, Kyphosis, Patent ductu... |
OMIM:619472 |
Sotos Syndrome |
|
Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Ankle flexion contracture, Crani... |
ORPHA:821 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Large hands, Abnormality of... |
ORPHA:97685 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Branchiooculofacial Syndrome |
|
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, S... |
OMIM:113620 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... |
ORPHA:508 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Hypoplasia of the Leydig cells, Ataxia, Testicular fibr... |
ORPHA:64 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Scorpion Envenomation |
|
Hyperglycemia, Glycosuria |
ORPHA:466677 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:79102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia |
OMIM:220111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |