Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia |
OMIM:209100 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis |
OMIM:176250 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis |
OMIM:213000 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cerebellar agenesis |
ORPHA:1397 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia |
OMIM:619333 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Slurred speech, Gait disturbance, Incoordination |
ORPHA:98766 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca... |
OMIM:615268 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... |
OMIM:611694 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ... |
OMIM:619742 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia,... |
OMIM:617435 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent... |
OMIM:608029 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Short s... |
OMIM:610185 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Growt... |
OMIM:614322 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... |
ORPHA:423275 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi... |
OMIM:302500 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia |
OMIM:615705 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign,... |
OMIM:614409 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ... |
ORPHA:1175 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... |
OMIM:220200 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ... |
OMIM:610743 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... |
ORPHA:314603 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Urocanase Deficiency |
|
Broad-based gait, Short stature, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... |
OMIM:276880 |
Masa Syndrome |
|
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia,... |
OMIM:303350 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Dysphagia, Athetosis, Dysd... |
OMIM:248900 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysphagia, Gait disturbance, Truncal ataxia, Cerebellar ... |
OMIM:614229 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Fr... |
OMIM:617691 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short stature, Atax... |
OMIM:616756 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid... |
OMIM:618090 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysphagia, Choreoathetosis, Positive Romber... |
OMIM:618088 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... |
OMIM:128100 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Kyphoscoliosis, Aggressive behavior, Unsteady gait, Phonic tics, C... |
OMIM:301107 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Tip-toe gait, Dysphagia... |
ORPHA:496689 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:224050 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Hypotonia |
OMIM:618878 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ata... |
OMIM:616230 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... |
ORPHA:521406 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressiv... |
OMIM:617225 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... |
OMIM:619054 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Ataxia, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder |
OMIM:620007 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Bruxism, Growth delay, Gait disturbance, Inappropriate laughte... |
ORPHA:505652 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Kyphosis, Chorea, Inabi... |
ORPHA:500180 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... |
ORPHA:3115 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Atypical Rett Syndrome |
|
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Gait disturbance... |
ORPHA:3095 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gai... |
OMIM:617404 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... |
ORPHA:71517 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Dystonia, Neonatal death, Intrauterine growth ... |
OMIM:618237 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Dystonia, Loss o... |
OMIM:617916 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... |
OMIM:605259 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... |
OMIM:618369 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidi... |
OMIM:607136 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Growth ... |
OMIM:619738 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ... |
OMIM:611390 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment |
OMIM:617087 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Death in infancy, Spasticity, Ataxia |
OMIM:300067 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... |
OMIM:230650 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait dist... |
OMIM:210000 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Scoliosis, Spa... |
OMIM:615157 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Short stature, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairmen... |
OMIM:618124 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Short stature, Kyphoscoliosis, Abnormal cerebellum mor... |
OMIM:275900 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Parastremmatic Dwarfism |
|
Kyphosis, Severe short stature, Scoliosis, Short neck |
OMIM:168400 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rig... |
ORPHA:98759 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Kyphosis, Babins... |
ORPHA:88644 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Poor motor coordination, Tre... |
ORPHA:1170 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, M... |
OMIM:614487 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Disproportionat... |
OMIM:271630 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Ataxia... |
ORPHA:251347 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of verteb... |
OMIM:616583 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Kyphoscolio... |
ORPHA:3077 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... |
ORPHA:319199 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Intr... |
ORPHA:48431 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Distal s... |
OMIM:603516 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spastic... |
OMIM:248800 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Cerebellar atrophy, Ataxia, Severe temper tantrums, Dysmetria, Gait ataxia, Attention deficit hyp... |
OMIM:614306 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady ... |
ORPHA:397946 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... |
ORPHA:276198 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Dystonia, Short stature, Absent pubertal growth spurt, Atax... |
ORPHA:464282 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Aggressive behavior, Impulsi... |
OMIM:607454 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait,... |
ORPHA:37612 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Short neck, Kyphosis, Inability to walk, Scoliosis, Difficulty walking, Neonatal death |
OMIM:611890 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Hyperlordosis, Kyphosis, Dysphagia, Tip-toe gait, Scoliosis... |
OMIM:606612 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... |
ORPHA:99750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Kyphosis, Scoliosis, Bruxism |
OMIM:300434 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Short stature |
OMIM:618392 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Dysphagia, H... |
OMIM:614153 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Short stature |
ORPHA:85288 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Death in infancy, Kyphoscoliosis, Tremor, Inability to walk, Dysphagia, Chore... |
OMIM:617664 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... |
ORPHA:98805 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Abnormal cerebellum morphology, Kyphosis, Vocal cord paralysis, Truncal ataxia, Dysphagia... |
OMIM:211530 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Hemiplegia |
ORPHA:2181 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Dysphagia, Scoliosis, Spinal rigidity |
OMIM:618323 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Gait ataxia |
ORPHA:139480 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetr... |
OMIM:619909 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance |
ORPHA:1875 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... |
ORPHA:64753 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature |
OMIM:618453 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Abnormal sacrum morphology, Kyphosis,... |
ORPHA:324737 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Short stature, Aggressive behavior, Tremor, Kyphosis, Gait ataxia, Delayed puberty... |
OMIM:300354 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ank... |
OMIM:609541 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Scoliosis, Dysphagia, Neonatal death, Intrauterine growth retar... |
OMIM:619751 |
Rett Syndrome |
|
Dystonia, Short stature, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Scoliosis, Truncal ataxia,... |
OMIM:312750 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait a... |
OMIM:617988 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Growth delay, Self-injurious behavior, Cerebellar hypoplasia, Scoli... |
ORPHA:238750 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Kyphosis, Prenatal death, Short neck |
OMIM:618393 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature,... |
ORPHA:1354 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoli... |
OMIM:609813 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Spasticity, Dystonia |
OMIM:619255 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... |
ORPHA:97349 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Short stature, Kyphosis, Repetitive compulsive behavior, Hypertoni... |
ORPHA:352490 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Hydrocephalus, Spastic tetraplegia, Chiari ... |
OMIM:618476 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, ... |
ORPHA:171629 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Short stature, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Dystonia, Spasticity |
ORPHA:702 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Inab... |
OMIM:618443 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Self-injurious behavior, Skin-picking, Aggressive behavior |
OMIM:618512 |
Sialidosis Type 2 |
|
Tremor, Kyphosis, Short stature, Ataxia |
ORPHA:87876 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Self-injurious behavior, Scoliosis |
OMIM:617768 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Pseudobulbar paralysis, Dy... |
OMIM:607371 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:88628 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Sialidosis Type 1 |
|
Ataxia, Short stature, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, G... |
ORPHA:812 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Kyphosis, Hydrocephalus, Abnormal ... |
ORPHA:2635 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes, Cervical... |
OMIM:301900 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Hyperlordosis, Kyphosis, Scoliosis, Intrauterine growth retardation |
OMIM:255200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Short neck, Po... |
OMIM:300966 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:276630 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Cerebral palsy, Short stature, Kyphosis, Hypertonia, Scoliosis, Intrauterine growt... |
OMIM:615834 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Short stature, Aggressive behavior, Kyphosis, B... |
ORPHA:364028 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Severe short stature, Increased inte... |
ORPHA:93314 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Dysmetria, Dysphag... |
OMIM:619708 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Ataxia, Postnatal growth retardation, Cerebellar hypoplasia, Dystonia |
OMIM:616113 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Kyphosis, Short stature, Hyperlordosis |
ORPHA:3085 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Short stature, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Growth delay, Tip-toe... |
ORPHA:447760 |
Sjögren-Larsson Syndrome |
|
Short stature, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:300831 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Schaaf-Yang Syndrome |
|
Short stature, Impulsivity, Inability to walk, Kyphosis, Scoliosis, Skin-picking, Polyphagia |
OMIM:615547 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Generalized dystonia, Short stature, Kyphosis, Scoliosis, Dysphagia |
ORPHA:79107 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic qu... |
OMIM:207800 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dysphagia |
ORPHA:352447 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... |
OMIM:607326 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis |
OMIM:618138 |
Flynn-Aird Syndrome |
|
Kyphosis, Ataxia, Scoliosis, Impaired pain sensation |
ORPHA:2047 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Kyphosis, Scoliosis |
OMIM:619797 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy |
OMIM:615084 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Severe short stature, Thoracolumbar scoliosis |
OMIM:313420 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Cerebellar hypoplasia, Dystonia |
ORPHA:453533 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Torticollis, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:181405 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Impulsivity, Aggressive behavior, Kyphosis, Hydrocephalus, Gait disturbance, Scoli... |
ORPHA:500055 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Short stature, Ataxia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Unsteady ... |
ORPHA:354 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking, Intraut... |
ORPHA:90322 |
Alexander Disease |
|
Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Aqueductal stenosis, Hydrocephalus, ... |
ORPHA:58 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short stature, Short neck, Inability to walk, Kyphosis, Scoliosis, Dysphagia, Oculomotor apraxia,... |
OMIM:301041 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Scoliosis |
ORPHA:79327 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation |
OMIM:234250 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis |
OMIM:615761 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... |
ORPHA:98863 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1858 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scol... |
OMIM:620351 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder, Alobar holoprosencephaly |
OMIM:615433 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Tongue thrusting, Bruxism, Athetosis, Scoliosis, Apraxia, Spasticity,... |
OMIM:613454 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc... |
ORPHA:98855 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis |
ORPHA:536516 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp... |
OMIM:253010 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:98853 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis |
OMIM:300280 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly |
ORPHA:93274 |
Wieacker-Wolff Syndrome |
|
Dystonia, Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Apraxia, Oculomotor apra... |
OMIM:314580 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Death in infancy, Cerebellar vermis hypoplasia, Ata... |
OMIM:212065 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Disproportionate sh... |
ORPHA:2655 |
Typical Nemaline Myopathy |
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Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis |
ORPHA:171436 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Pain insensitivity, Aggressive behavior, Tremor, Kyphosis, Dysphagia, Self-injurious behavior, Co... |
OMIM:617061 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis |
OMIM:259440 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Growth delay, Platyspon... |
OMIM:251450 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Mucopolysaccharidosis Type 4 |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait di... |
ORPHA:582 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis, Death in infancy |
ORPHA:1545 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hyperactivity, Short stature, Short neck, Tremor, Kyphosis, Aggressive behavior... |
ORPHA:85293 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Self-in... |
ORPHA:192 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
3C Syndrome |
|
Death in infancy, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hydrocephalu... |
ORPHA:7 |
Mcdonough Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:2471 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Cerebellar hypoplasia, Scoliosis, Spina bi... |
OMIM:618291 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Mild short stature, Scoliosis |
OMIM:130060 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Kyphosis, Scoliosis,... |
ORPHA:2510 |
Marden-Walker Syndrome |
|
Short neck, Postnatal growth retardation, Kyphosis, Cerebellar hypoplasia, Scoliosis, Intrauterin... |
OMIM:248700 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Kyphosis, Gait ataxia, Compulsive behaviors, Scoliosis, Attention de... |
ORPHA:476126 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Kyphosis, Short neck |
OMIM:608776 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Short neck, Kyphosis, Meningocele, Abnorm... |
ORPHA:2311 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Short stature, Kyphosis, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:2479 |
Bruck Syndrome 1 |
|
Short stature, Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis |
OMIM:259450 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Hydrocephalus, Disproportionate short stature, Spinal... |
ORPHA:15 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Progressive spastic quadriplegia, Abnormality o... |
ORPHA:521426 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Ruvalcaba Syndrome |
|
Kyphosis, Short stature, Scoliosis, Delayed puberty |
OMIM:180870 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Self-injurious ... |
ORPHA:254346 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hyper... |
OMIM:230500 |
Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Kyphosis, Growth delay, Gait disturbance, Cerebellar hypoplasia, Scoliosis... |
ORPHA:261349 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Short stature, Scoliosis |
OMIM:108145 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... |
OMIM:223800 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Hydrocephalus, Disproportionate... |
OMIM:616482 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Platyspondyly |
OMIM:616294 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scol... |
ORPHA:2050 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine growth retardation, Neon... |
ORPHA:628 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Communicating hydrocephalus, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis |
OMIM:617011 |
15Q24 Microdeletion Syndrome |
|
Short stature, Postnatal growth retardation, Kyphosis, Myelomeningocele, Scoliosis |
ORPHA:94065 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Short stature, Scoliosis |
ORPHA:2771 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Short neck, Po... |
OMIM:253220 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation, ... |
OMIM:609029 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis, Short neck |
ORPHA:3191 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1883 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Short stature, Inability to walk, Kyphosis, Unsteady gait, Scoliosis |
OMIM:618493 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Fountain Syndrome |
|
Short stature, Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bi... |
ORPHA:3219 |
Trisomy 13 |
|
Kyphosis, Chiari malformation, Scoliosis, Intrauterine growth retardation |
ORPHA:3378 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Tremor, Kyphosis, Unsteady gait, Death in adolescence, Dystonia, Spasticity |
OMIM:615512 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Pycnodysostosis |
|
Rhizomelia, Hyperlordosis, Kyphosis, Chiari malformation, Spondylolysis, Scoliosis, Disproportion... |
ORPHA:763 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Kyphosis, Tip-toe gait, Compulsive behaviors, Scoliosis, Attention deficit hyperac... |
OMIM:618050 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Kyphosis, Hydrocephalus, Meningocele, Chiari type I ... |
OMIM:130720 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Tics, Compulsive behav... |
OMIM:619475 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Chiari m... |
ORPHA:2789 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, ... |
ORPHA:2916 |
Trisomy 20P |
|
Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:261318 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Aggressive behavior, Tremor, Kyphosis, Impulsivity, Cereb... |
OMIM:300967 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:261144 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Vertebral segmentation def... |
ORPHA:1005 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Short stature, Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebra... |
ORPHA:3042 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Kyphosis, Scoliosis, Death in childhood, Attention deficit hyperactivity... |
OMIM:619005 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation |
ORPHA:2075 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyl... |
ORPHA:93360 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Intrauterine growt... |
ORPHA:3121 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Lethal short-limbed... |
ORPHA:1860 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Hydrocephalus |
OMIM:603387 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short stature, Short neck |
ORPHA:3409 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Torticollis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Mild short stature |
OMIM:169400 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis, Dysphagia |
OMIM:617143 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short stature, Short neck |
ORPHA:3082 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
3M Syndrome |
|
Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrau... |
ORPHA:2616 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hyperto... |
OMIM:617527 |
Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Limb hyper... |
OMIM:617190 |
Weaver Syndrome |
|
Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Cerebellar hypoplasia, Scolio... |
OMIM:277590 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Cerebel... |
ORPHA:457359 |
Cockayne Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Severe short stature, Ataxia, Action tremor, Pos... |
ORPHA:191 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Impulsivity, Impaired temperature sensation, Kyphosis, Compulsive behaviors, Scoli... |
ORPHA:398069 |
Cowden Syndrome 1 |
|
Kyphosis, Dysplastic gangliocytoma of the cerebellum, Scoliosis, Intention tremor |
OMIM:158350 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Spina bifida occulta, Scoliosis, Dandy-Walker malformation |
OMIM:616602 |
Prader-Willi Syndrome |
|
Short stature, Impaired pain sensation, Kyphosis, Poor gross motor coordination, Poor fine motor ... |
OMIM:176270 |
Distal Triplication 15Q |
|
Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation, Dandy-Walker malformation |
ORPHA:314588 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Scoliosis, S... |
OMIM:301040 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosis |
ORPHA:404440 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:261190 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Kyphosis, Severe postnatal growth retardation,... |
OMIM:216400 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Short neck, Kyphosis, Hydrocephalus, Mild short stature |
OMIM:309900 |
Cockayne Syndrome B |
|
Severe short stature, Ataxia, Cerebellar calcifications, Postnatal growth retardation, Kyphosis, ... |
OMIM:133540 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Short stature, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Hydranenc... |
ORPHA:1393 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Anorexia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Sc... |
ORPHA:1328 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Aggressive behavior, Kyphosis, Hydrocephalus, Dandy-... |
ORPHA:401973 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Abnormally ossified vertebrae, Short stature, Short neck, Hyperlordosis, Kyphos... |
ORPHA:800 |
Marden-Walker Syndrome |
|
Severe short stature, Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Growth dela... |
ORPHA:2461 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Short stature, Cervical kyphosis, Rhizomelia, Ataxia, Kyphosis, Hydr... |
ORPHA:666 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Vertebral segmentation defect, Scoliosis, Overfriendli... |
ORPHA:96169 |
Spondyloenchondrodysplasia |
|
Short stature, Kyphosis, Chorea, Disproportionate short-trunk short stature, Platyspondyly, Spast... |
ORPHA:1855 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Aggressive behavior, Inability to walk, Kyphosis, Difficulty walking, Scoliosis, Spasticity |
ORPHA:464738 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria, Attention deficit hyperactivity disorder |
OMIM:620185 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... |
ORPHA:349 |
Dysostosis, Stanescu Type |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:1798 |
Hurler-Scheie Syndrome |
|
Growth delay, Kyphosis, Short stature, Scoliosis |
OMIM:607015 |
Hurler Syndrome |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Biconcave... |
OMIM:607014 |
Microphthalmia, Lenz Type |
|
Short stature, Hyperlordosis, Kyphosis, Self-injurious behavior, Scoliosis |
ORPHA:568 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Hyperactivity, Short stature, Impulsivity, Kyphosis, Scoliosis, ... |
OMIM:610443 |
Harrod Syndrome |
|
Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:2115 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Hydrocephalus, Scoliosis |
OMIM:619951 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the verteb... |
ORPHA:280 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Kyphosis, Abnormal repetitive mannerisms, Birth length less than 3rd percentile, Gait disturbance... |
ORPHA:464311 |
Monosomy 9Q22.3 |
|
Hyperactivity, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Chiari m... |
ORPHA:77301 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine growth retardation, Butterfly vertebrae |
ORPHA:958 |
Mend Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Kyphosis, Hydrocephalus, Hypertonia, Dandy-Walker ma... |
OMIM:300960 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Kyphosis, Unsteady gait, Scoliosis, Difficulty walking, Intent... |
ORPHA:90324 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Short stature, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:602535 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Gaucher Disease Type 1 |
|
Anorexia, Kyphosis, Growth delay, Delayed puberty, Vertebral compression fracture |
ORPHA:77259 |
Cowden Syndrome |
|
Ataxia, Short stature, Abnormal cerebellum morphology, Kyphosis, Scoliosis |
ORPHA:201 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short stature, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait dist... |
OMIM:265000 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Short stature, Kyphosis, Abnormal repetitive mannerisms, Gait disturbance, Scolios... |
ORPHA:464306 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Disproportionate short-trunk short stature, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Polyphagia |
OMIM:300942 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Poor coordination, Scoliosis, Short neck |
ORPHA:420794 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Short stature, Ataxia, Aggressive behavior, Kyphosis, Hypertonia... |
ORPHA:268261 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Short stature, Scoliosis, Anorexia |
ORPHA:1969 |
Mgat2-Cdg |
|
Kyphosis, Stereotypical hand wringing, Cerebellar hypoplasia, Scoliosis |
ORPHA:79329 |
Neurofibromatosis Type 1 |
|
Ataxia, Short stature, Kyphosis, Hydrocephalus, Paresthesia, Scoliosis, Delayed puberty, Attentio... |
ORPHA:636 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis, Dysphagia |
OMIM:619482 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Speech apraxia, Overfriendliness, Sacral dimple, Spina bifida, Hyperlordosis, Postnatal growth re... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Speech apraxia, Overfriendliness, Sacral dimple, Spina bifida, Hyperlordosis, Postnatal growth re... |
ORPHA:363958 |
Cardiofacioneurodevelopmental Syndrome |
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Kyphosis, Cerebellar vermis hypoplasia |
OMIM:619123 |
X-Linked Intellectual Disability, Snyder Type |
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Short stature, Involuntary movements, Kyphoscoliosis, Inability to walk, Kyphosis, Unsteady gait,... |
ORPHA:3063 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Kyphosis, Hydrocephalus, Intrauterine growth retardation |
OMIM:616914 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Kyphosis, Agitation |
OMIM:219080 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Kyphosis, Spasticity, Scoliosis |
OMIM:616449 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Kyphosis, Agitation |
OMIM:610475 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Waddling gait, Lumbar hyperlordosis, Short stature, Rhizomelia, Kyphoscoliosis, Short neck, Kypho... |
OMIM:143095 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis, Aggressive behavior |
OMIM:619244 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Growth delay, Kyphosis, Short stature, Scoliosis |
OMIM:619557 |
Smith-Lemli-Opitz Syndrome |
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Short stature, Rhizomelia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Growth de... |
ORPHA:818 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Kyphosis, Short stature, Scoliosis, Intrauterine growth retardation |
OMIM:617602 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short stature, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Attention deficit hyperactivity di... |
OMIM:618223 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
16Q24.3 Microdeletion Syndrome |
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Kyphosis, Scoliosis, Dysphagia |
ORPHA:261250 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:140 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Kyphosis, Severe short stature, Scoliosis |
ORPHA:2215 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Myoclonus |
OMIM:258850 |
Holt-Oram Syndrome |
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Kyphosis, Scoliosis |
ORPHA:392 |
Hajdu-Cheney Syndrome |
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Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Chiari malf... |
ORPHA:955 |
Alstrom Syndrome |
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Kyphosis, Short stature, Scoliosis |
OMIM:203800 |
Noonan Syndrome 14 |
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Kyphosis, Short stature, Short neck |
OMIM:619745 |
Cohen Syndrome |
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Short stature, Kyphosis, Scoliosis, Delayed puberty, Intrauterine growth retardation |
ORPHA:193 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis |
ORPHA:536532 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress... |
OMIM:610915 |
Mucolipidosis Type Ii |
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Postnatal growth retardation, Kyphosis, Short stature, Inability to walk |
ORPHA:576 |
Osteoporosis-Pseudoglioma Syndrome |
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Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... |
OMIM:259770 |
Mosaic Trisomy 20 |
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Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Kyphosis, Agitation |
OMIM:610489 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Hypoplasia of the pons, Spina bifida occulta, Scoliosis, Dandy-Walker malformation |
OMIM:618736 |
Zttk Syndrome |
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Short stature, Kyphosis, Hemivertebrae, Growth delay, Cerebellar hypoplasia, Scoliosis, Intrauter... |
OMIM:617140 |
Coffin-Siris Syndrome 1 |
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Sacral dimple, Short stature, Aggressive behavior, Postnatal growth retardation, Kyphosis, Gait a... |
OMIM:135900 |
Pituitary Adenoma 4, Acth-Secreting |
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Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
2Q31.1 Microdeletion Syndrome |
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Short stature, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:251014 |
Williams Syndrome |
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Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Compulsi... |
ORPHA:904 |
1P36 Deletion Syndrome |
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Short stature, Kyphosis, Hemiplegia/hemiparesis, Polyphagia, Spinal canal stenosis, Self-injuriou... |
ORPHA:1606 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Classic Homocystinuria |
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Anorexia, Kyphosis, Scoliosis, Hemiplegia/hemiparesis |
ORPHA:394 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Kyphosis, Short stature |
OMIM:239000 |
Robinow Syndrome, Autosomal Dominant 3 |
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Sacral dimple, Short stature, Short neck, Kyphosis, Scoliosis |
OMIM:616894 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Short stature, Kyphosis, Hydrocephalus, Abnormal form of the ver... |
OMIM:194190 |
Autosomal Recessive Robinow Syndrome |
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Death in infancy, Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Disproporti... |
ORPHA:1507 |
Alkaptonuria |
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Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Oculocerebrorenal Syndrome Of Lowe |
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Death in infancy, Short stature, Clonus, Kyphosis, Self-injurious behavior, Platyspondyly, Scolio... |
ORPHA:534 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Short neck, Kyphosis, Hypertonia, Disproportionate short-limb short stature, Scoliosis |
OMIM:619194 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Frank-Ter Haar Syndrome |
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Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccyx |
OMIM:249420 |
Primrose Syndrome |
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Restlessness, Short stature, Ataxia, Aggressive behavior, Kyphosis, Irregular vertebral endplates... |
OMIM:259050 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... |
OMIM:300106 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis |
OMIM:182210 |
Lenz-Majewski Hyperostotic Dwarfism |
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Kyphosis, Hydrocephalus, Severe short stature, Scoliosis |
ORPHA:2658 |
Lowe Oculocerebrorenal Syndrome |
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Short stature, Aggressive behavior, Postnatal growth retardation, Kyphosis, Platyspondyly, Scolio... |
OMIM:309000 |
Cleidocranial Dysplasia 1 |
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Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Aspartylglucosaminuria |
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Short stature, Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebra... |
OMIM:208400 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Growth delay, Kyphosis, Lumbar hyperlordosis, Delayed puberty |
ORPHA:2232 |
Multiple Endocrine Neoplasia, Type Iib |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Familial Osteodysplasia, Anderson Type |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Poland Syndrome |
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Encephalocele, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spi... |
ORPHA:2911 |
Cdags Syndrome |
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Kyphosis |
OMIM:603116 |
Marfan Syndrome |
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Kyphosis, Meningocele, Attention deficit hyperactivity disorder, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Severe short stature, Kyphosis, Growth delay, Platyspondyly, Abnormality of the vertebral column,... |
ORPHA:2273 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Kyphosis |
OMIM:609944 |
Stickler Syndrome |
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Short stature, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vert... |
ORPHA:828 |
Ramon Syndrome |
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Kyphosis, Short stature, Scoliosis |
OMIM:266270 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Short stature, Short neck, Postnatal growth retardation, Kyphosis, Growth delay, Scoliosis, Delay... |
ORPHA:99413 |
Turner Syndrome |
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Short stature, Short neck, Postnatal growth retardation, Kyphosis, Growth delay, Scoliosis, Delay... |
ORPHA:881 |
Mosaic Monosomy X |
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Short stature, Short neck, Postnatal growth retardation, Kyphosis, Growth delay, Scoliosis, Delay... |
ORPHA:99228 |
Monosomy X |
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Short stature, Short neck, Postnatal growth retardation, Kyphosis, Growth delay, Scoliosis, Delay... |
ORPHA:99226 |
Occipital Horn Syndrome |
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Kyphosis, Platyspondyly, Scoliosis, Dysphagia |
ORPHA:198 |
Acromegaly |
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Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
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Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:314769 |
Occipital Horn Syndrome |
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Growth delay, Kyphosis, Platyspondyly |
OMIM:304150 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis |
OMIM:153400 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Aggressive behavior, Tremor, Kyphosis, Poo... |
ORPHA:821 |
Branchiooculofacial Syndrome |
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Agenesis of cerebellar vermis, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck,... |
OMIM:113620 |
17Q11 Microdeletion Syndrome |
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Abnormal central motor function, Short stature, Kyphosis, Abnormality of the vertebral column, Be... |
ORPHA:97685 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Kyphosis |
ORPHA:85199 |
Coffin-Lowry Syndrome |
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Kyphosis, Short stature, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Wrinkly Skin Syndrome |
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Kyphosis, Short stature, Scoliosis, Intrauterine growth retardation |
OMIM:278250 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, Kyphosis, Growth delay, B... |
OMIM:216340 |
Viss Syndrome |
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Short stature, Kyphosis, Scoliosis, Dysphagia, Butterfly vertebrae |
OMIM:619472 |
Proteus Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:744 |
Alström Syndrome |
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Thoracic scoliosis, Somatic sensory dysfunction, Short stature, Ataxia, Incoordination, Kyphosis,... |
ORPHA:64 |
Non-Syndromic Bicoronal Craniosynostosis |
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ORPHA:35099 |