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Gene: Ky MGI:96709

Gene Summary

Name:

kyphoscoliosis peptidase

Synonyms:

D9Mgc44e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal behavior	Ky^em1(IMPC)J	HOM	Early adult	3.24×10^-18
increased grip strength	Ky^em1(IMPC)J	HOM	Early adult	8.94×10^-11
decreased exploration in new environment	Ky^em1(IMPC)J	HOM	Early adult	2.71×10^-11
impaired righting response	Ky^em1(IMPC)J	HOM	Early adult	5.30×10^-06
abnormal gait	Ky^em1(IMPC)J	HOM	Early adult	3.60×10^-19
increased circulating glucose level	Ky^em1(IMPC)J	HET	Early adult	1.30×10^-06
increased leukocyte cell number	Ky^em1(IMPC)J	HET	Early adult	4.03×10^-05
decreased grip strength	Ky^em1(IMPC)J	HOM	Early adult	1.51×10^-05
tremors	Ky^em1(IMPC)J	HOM	Early adult	1.56×10^-10

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Combined SHIRPA and Dysmorphology

Images

53 Images

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Electroretinography 3

Fundus file

21 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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Human diseases caused by Ky mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ky (2 diseases)
Human diseases predicted to be associated with Ky (1016 diseases)

The table below shows human diseases associated to Ky by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome		Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Myopathy, Myofibrillar, 7		Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt...	OMIM:617114

The table below shows human diseases predicted to be associated to Ky by phenotypic similarity.

Disease	Matching phenotypes	Source
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	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	Back pain, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbous tips ...	ORPHA:3168
Maturity-Onset Diabetes Of The Young, Type 10	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	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Multiple Epiphyseal Dysplasia Type 5	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	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	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelia, Kyphoscoliosis, Flexion contracture, Flared metaphysis, Respiratory insufficiency, Co...	OMIM:215100
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,...	OMIM:609223
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi...	OMIM:618093
Foxg1 Syndrome	Kyphoscoliosis, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Scoli...	ORPHA:561854
Spondylometaphyseal Dysplasia, Kozlowski Type	Waddling gait, Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, ...	OMIM:184252
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a...	ORPHA:99956
Chst3-Related Skeletal Dysplasia	Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the ...	ORPHA:263463
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	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	Kyphosis, Failure to thrive, Ataxia, Facial myokymia	OMIM:620007
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Multiple joint dislocation, Abnormal curvature of the vertebral c...	ORPHA:93360
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Respiratory distress, Torticollis, Kyphoscoliosis, Dysdiadochokinesis, Gait di...	ORPHA:98805
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles...	OMIM:607155
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ...	ORPHA:59
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Respiratory in...	ORPHA:178148
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B...	OMIM:255800
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,...	OMIM:615924
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Ck Syndrome	Long toe, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Pachygyria, Slender build, Polymicr...	ORPHA:251383
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Flexion contracture, Increased laxity of ankles, Muscle fiber necrosi...	OMIM:254090
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ...	ORPHA:71517
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones...	OMIM:618363
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Anterior rib cupping, Kyphoscoliosis, Short n...	OMIM:300232
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscol...	OMIM:300280
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu...	OMIM:261630
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v...	OMIM:230650
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated s...	ORPHA:86812
Intellectual Developmental Disorder, X-Linked 111	Unsteady gait, Kyphoscoliosis	OMIM:301107
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia, Failure t...	ORPHA:319199
Congenital Myasthenic Syndrome	Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w...	ORPHA:98914
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle...	OMIM:255200
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Ataxia, Centrally nucl...	OMIM:248800
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Rocker bottom foot, Adduct...	OMIM:610758
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis	OMIM:612913
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Limb joint c...	OMIM:612079
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion...	OMIM:277720
Epilepsy, Progressive Myoclonic, 6	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	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B...	ORPHA:240094
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,...	OMIM:114300
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis	OMIM:260600
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the lower limbs, Spastic ...	OMIM:614409
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormal intervertebral disk morphology, Dysesthesia, Abnormality of the vertebral e...	ORPHA:85446
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, ...	OMIM:612350
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short f...	OMIM:618392
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	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

Histopathology

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

There is no histopathology data for Ky

IMPC related publications

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

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Quinolinate promotes macrophage-induced immune tolerance in glioblastoma through the NMDAR/PPARγ signaling axis.	Nature communications (March 2023)	Kynu^em1(IMPC)J	PMC10020159

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MGI Allele	Allele Type	Produced
Ky^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ky MGI:96709

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Combined SHIRPA and Dysmorphology

Electroretinography 3

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Ky mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data