Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger protein of the cerebellum 1
Synonyms:
odd-paired homolog

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Zic1 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.

The table below shows human diseases associated to Zic1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Oxycephaly
Arnold-Chiari malformation ORPHA:63440
Craniosynostosis 6
Scoliosis, Cerebellar atrophy, Dandy-Walker malformation, Spina bifida occulta OMIM:616602
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons OMIM:618736
Isolated Brachycephaly
ORPHA:35099
Isolated Plagiocephaly
ORPHA:35098

The table below shows human diseases predicted to be associated to Zic1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hypotonia, Hyperactivity DECIPHER:20
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Generalized hypotonia, Abasia, Ataxia, Hypotonia OMIM:209100
Mental Retardation, Autosomal Recessive 29
Hypotonia OMIM:614333
Mental Retardation, Autosomal Dominant 45
Generalized hypotonia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Posterior Column Ataxia
Scoliosis, Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia, Cerebellar vermis atrophy ORPHA:211017
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia OMIM:619333
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Intention tremor, Spasticity, Progressiv... ORPHA:284332
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Dystonia With Cerebellar Atrophy
Dystonia, Dysphagia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, To... OMIM:611694
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign OMIM:618418
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Lower limb spasticity, Unste... OMIM:616948
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature OMIM:616113
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short stature, ... OMIM:608029
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Scoliosis, Kyphosis, Distal sensory impairment OMIM:617087
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dystonia, Tremor, Dysphagia, Kyphosis, Hypertonia, Abnormal pyramidal sign, Bradykines... OMIM:617435
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Dysphagia, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Gait ataxia, Babinski sign, Short stature OMIM:616192
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Progress... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Dysphagia, Oculomotor apraxia, Ataxia, Un... OMIM:617633
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Neurodegeneration With Brain Iron Accumulation 7
Dysphagia, Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnor... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Dysphagia, Progressive cerebellar ataxia, Ce... OMIM:605361
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... OMIM:614860
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cere... ORPHA:1175
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Parkinsonis... OMIM:162350
Hypermanganesemia With Dystonia 2
Scoliosis, Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Cerebellar atrophy, Pa... OMIM:617013
Dandy-Walker Syndrome
Truncal ataxia, Partial absence of cerebellar vermis, Dilated fourth ventricle, Agenesis of cereb... OMIM:220200
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic ataxia, Gait disturbance, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:101075
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Scoliosis, Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Progressive cerebellar a... ORPHA:314603
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... OMIM:614409
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Dysphagia, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum m... OMIM:618317
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Masa Syndrome
Hyperlordosis, Spastic paraplegia, Kyphosis, Lower limb spasticity, Short stature, Paraplegia, Hy... OMIM:303350
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Cerebellar atrophy, Spastic gait... OMIM:610357
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Ataxia, Lumbar hyperlordosis, Lower limb spasti... OMIM:616756
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Dysphagia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls... OMIM:617691
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:101078
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Cerebella... ORPHA:521406
Spastic Ataxia 3, Autosomal Recessive
Scoliosis, Dystonia, Gait ataxia, Spastic ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:611390
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Dysphagia, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosi... OMIM:616981
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Knee clonus, ... OMIM:275900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Intention tremor, Cerebellar hypoplasia, Cerebel... OMIM:224050
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Spastic gait, Cerebellar atrophy... OMIM:607565
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Roussy-Lévy Syndrome
Scoliosis, Postural tremor, Impaired pain sensation, Gait ataxia, Clumsiness, Impaired vibratory ... ORPHA:3115
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Kyphosis, Ataxia, Cerebellar atrophy ORPHA:85317
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Small for gestational a... OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Unsteady gait, Short stature OMIM:618273
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Dysphagia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614229
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia, Unsteady gait, Cerebellar atrophy OMIM:300861
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Dysphagia, Abnormal pyramidal sig... OMIM:616795
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Cerebellar atrophy, Parkinsonism, Babinsk... OMIM:300423
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Growth delay, Ataxia, Abnormal cerebellum morphology, Babinski sign, Spasticity OMIM:618242
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck, Severe short stature OMIM:168400
Spastic Paraplegia 26, Autosomal Recessive
Scoliosis, Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Spastic gait, A... OMIM:609195
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Dysphagia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Cerebel... ORPHA:71517
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Dyspha... ORPHA:98
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Paraparesis, Gait disturbance, Kyphosis, Ataxia, Impaired pain sensation ORPHA:99014
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Spinocerebellar Ataxia 48
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Dysphagia, Ataxia, Br... OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Lissencephaly, X-Linked, 1
Postnatal growth retardation, Death in infancy, Ataxia, Spasticity OMIM:300067
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Cerebellar atrophy, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Kyphosis, Lower lim... OMIM:614898
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Scoliosis, Kyphosis, Cerebellar hypoplasia, Ataxia, Unsteady gait, Short statu... OMIM:618443
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Generalized hypotonia, Ataxia, Athetosis, Hypotonia OMIM:615159
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Scoliosis, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurre... ORPHA:93952
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Dysphagia, Ataxia, Cerebellar atrophy, Dysmetria, Choreoathetosis, Spasticity OMIM:618088
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Kyphosis, Ataxia, Ankle cl... ORPHA:88644
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Impaired vibration sensation ... ORPHA:98772
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait, Short stature OMIM:618392
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Brachyolmia Type 1, Toledo Type
Childhood-onset short-trunk short stature, Gait disturbance, Back pain, Irregular vertebral endpl... OMIM:271630
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... ORPHA:98759
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Scoliosis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Dysphagia, Slurre... OMIM:607259
Charcot-Marie-Tooth Disease Type 1A
Sensory ataxia, Paresthesia, Spontaneous pain sensation, Gait disturbance, Distal sensory impairm... ORPHA:101081
Atypical Rett Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Pill-rolling tremor, Apraxia, Tremor, Gait d... ORPHA:3095
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Toe walking, Lower limb spasticity, Babinski sign, Kyphoscoliosis, Progressive spastic... ORPHA:496689
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Dystonia, Gait ataxia, Tremor, Kyphosis, Cerebellar atrophy, Dysmet... OMIM:617988
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis OMIM:619099
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Intention tremor, Cerebellar vermis hypoplasia... ORPHA:251347
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Abnormality of extrapyramidal ... ORPHA:500180
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Short stature, Hyperactivity ORPHA:85288
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Dysphagia, Oculomotor apraxia,... OMIM:614487
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Limb dystonia, Impaired proprioception, Clonus, Upper lim... ORPHA:319199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
You-Hoover-Fong Syndrome
Spasticity, Ataxia, Kyphoscoliosis OMIM:616954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Difficulty walking, Cerebellar cyst, Kyphosis, Toe walking, Vertebral f... OMIM:606612
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Paresthesia, Kyphosis, Abnormal pyramidal sign, Intention tremor, Ataxia, Dysmetria, S... ORPHA:48431
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
Joubert Syndrome 25
Oculomotor apraxia, Cerebellar hypoplasia, Ataxia OMIM:616781
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, Cerebellar atrop... OMIM:617560
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Kyphosis, Slurred speech, Anterior beaking of lumbar vertebra... OMIM:230650
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Dysphagia, Spasticity, Ataxia, ... ORPHA:98760
Spinocerebellar Ataxia 8
Tremor, Incoordination, Dysphagia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebe... OMIM:608768
Spastic Ataxia, Charlevoix-Saguenay Type
Scoliosis, Spastic ataxia, Progressive gait ataxia, Spasticity, Ataxia, Spastic gait, Loss of Pur... OMIM:270550
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Dysphagia, Ataxia, Tongue fascicula... ORPHA:276198
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Short stature, Postnatal growth retardation OMIM:608278
Episodic Ataxia Type 1
Scoliosis, Clumsiness, Hypertonia, Poor coordination, Cerebellar atrophy, Kyphoscoliosis, Tip-toe... ORPHA:37612
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Dysphagia, Cerebellar hypoplasia, Oculomotor a... ORPHA:313772
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Dysphagia, Ataxia, Cerebellar atrophy, Abnormal cerebellum morphology,... OMIM:607694
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Difficulty walking, Kyphosis, Absent pubertal growth spurt, Ataxia, Unsteady... ORPHA:464282
Cdkl5-Deficiency Disorder
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Growth delay, Impaired pain sensation,... ORPHA:505652
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Disproportionate short-trunk short stature, Intervertebral space ... OMIM:271530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Dysphagia, Ataxia, Cerebellar atrophy, Dysmetria, Broad-based gait OMIM:618098
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Dysphagia, Kyphosis, Spinal rigidity OMIM:618323
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Dysphagia, Gait disturbance, Postnatal growth retardation,... ORPHA:391417
Myoclonic-Atonic Epilepsy
Scoliosis, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Short stature, Hyperactivity OMIM:300434
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Short stature, Cerebellar cortical atrophy... OMIM:248800
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Dysphagia, Ataxia, Cerebell... OMIM:614153
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Scoliosis, Dystonia, Difficulty walking, Kyphosis, Neonatal death, Short neck OMIM:611890
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Frequent falls, Short neck OMIM:300718
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Spasticity OMIM:618426
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Spinocerebellar Ataxia 6
Dysphagia, Progressive cerebellar ataxia, Cerebellar atrophy, Abnormal vestibulo-ocular reflex OMIM:183086
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Ataxia, Abnormal cerebel... ORPHA:280234
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Dysphagia, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short sta... OMIM:614381
Spinocerebellar Ataxia Type 42
Scoliosis, Gait ataxia, Impaired vibration sensation at ankles, Head tremor, Dysphagia, Resting t... ORPHA:458803
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Clumsiness, Dysphagia, Kyphosis, Knee clonus, Ataxia, Ankle clonus, Abnormal cerebellu... OMIM:211530
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Dysphagia, Gait disturbance, Blepharospasm, Laryngeal dystonia, Torticollis, ... ORPHA:98805
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... OMIM:604391
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Lower limb spasticity, Cerebellar atrophy, Babinski sign ORPHA:139480
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
Srd5A3-Cdg
Kyphosis, Ataxia, Abnormal cerebellum morphology, Cerebellar atrophy, Abnormal cerebellar vermis ... ORPHA:324737
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia OMIM:613909
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Hemiplegia, Gait disturbance, Kyphosis, Hydrocephalus ORPHA:2181
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Growth delay, Toe walking, Hemiparesis, Postnatal growth retardation, Dysmetria, Spasti... OMIM:251950
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Torsion dystonia, Tremor, Kyphosis, Hypertonia, Blepharospasm, Writer's... OMIM:128100
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Dysphagia, Bradykinesia, Torticollis, C... ORPHA:98768
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia, Kyphoscoliosis OMIM:616684
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Vertebral segme... OMIM:609813
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Kyphosis, Cerebellar hypoplasia, Ataxia, Spastic tetraplegia, Rigidity, Hydrocepha... OMIM:618476
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Kyphosis, Spasticity ORPHA:2429
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Death in infancy, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportion... OMIM:277300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Dysphagia, Abnormal pyramidal sign, Oculomotor apraxia, A... ORPHA:64753
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Intention tremor, Dy... ORPHA:247234
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Short stature, Kyphoscoliosis, Hyper... ORPHA:3077
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Postnatal growth retardation OMIM:615361
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Scoliosis, Dystonia, Gait ataxia, Tremor, Progressive gait ataxia, Limb ataxia, Pontocerebellar a... OMIM:606002
Gillespie Syndrome
Postural tremor, Slurred speech, Cerebellar hypoplasia, Ataxia OMIM:206700
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis, Cerebellar hypoplasia OMIM:618291
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... ORPHA:1354
Mend Syndrome
Kyphosis, Hypertonia, Short stature, Hyperactivity, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis, Toe walking, Short stature, Attention deficit hyperactivity disorder OMIM:618050
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Mild short stature, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the... ORPHA:93315
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Richieri Costa-Da Silva Syndrome
Inability to walk, Beaking of vertebral bodies, Dysphagia, Decreased anterioposterior diameter of... ORPHA:3101
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Difficulty walking, Pontocerebellar atrophy, Kyphosis, Lo... ORPHA:171629
Pelizaeus-Merzbacher Disease
Scoliosis, Dystonia, Gait disturbance, Kyphosis, Ataxia, Short stature, Choreoathetosis, Spasticity ORPHA:702
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Kyphosis, Delayed puberty, Cerebellar vermis atrophy, Short stature, Hyperac... OMIM:300354
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Kyphosis, Hypertonia, Short stature, Hyperactivity, Stereotypy, Repetitive compulsive ... ORPHA:352490
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Camptocormia, Dysphagia, Kyphosis, Abnormal pyramidal s... ORPHA:97349
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Growth delay, Kyphosis, Cerebellar hypoplasia, Stereotypy, Intrauterine growth... ORPHA:238750
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Dysphagia, Kyphosis, Generalized dystonia, Short stature, Death in early adulthood ORPHA:79107
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Sever... ORPHA:2635
Baralle-Macken Syndrome
Inability to walk, Dystonia, Kyphosis, Spasticity OMIM:619255
Sialidosis Type 2
Kyphosis, Tremor, Short stature, Ataxia ORPHA:87876
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, Kyphosis, Slurred spe... ORPHA:812
Idiopathic Juvenile Osteoporosis
Gait disturbance, Vertebral compression fracture, Kyphosis ORPHA:85193
Ataxia-Telangiectasia-Like Disorder 2
Dysphagia, Ataxia, Unsteady gait, Cerebellar atrophy, Short stature OMIM:615919
Mental Retardation, Autosomal Dominant 26
Scoliosis, Kyphosis, Hypertonia, Short stature, Cerebral palsy OMIM:615834
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Kyphosis, Delayed ... OMIM:301900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Gait disturbance, Kyphosis, Ataxia, Impaired vibra... ORPHA:88628
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Scoliosis, Difficulty walking, Kyphosis, Toe walking, Vertebral fusion, Waddling g... OMIM:607155
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cerebellar atrophy, Short stature, Kyphosis ORPHA:3085
Rett Syndrome
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Kyphosis, Gait apraxia, Short stature, Spasticity OMIM:312750
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Short stature ORPHA:276630
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Hyperactivity OMIM:300831
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Kyphosis, Cerebellar atrophy, Spinal rigidity, Spinal deformities ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Dystonia, Spastic tetraplegia, Kyphosis OMIM:618237
Autosomal Recessive Spastic Paraplegia Type 9B
Postural tremor, Impaired vibration sensation at ankles, Growth delay, Toe walking, Spastic gait,... ORPHA:447760
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Short stature ORPHA:2786
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Attention deficit hyperactivity disorder OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Scoliosis, Dystonia, Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Cerebellar hypoplasi... OMIM:300966
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Short stature, Spasticity ORPHA:816
Bethlem Myopathy 2
Kyphosis OMIM:616471
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Waddling gait, Kyphosis OMIM:255200
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Dystonia, Cerebellar malformation, Slurred speech, Cerebellar vermis hypoplasi... ORPHA:357058
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Dispro... OMIM:607326
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Thoracolumbar scoliosis, Severe short stature OMIM:313420
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Spinal rigidity, Cerebellar hypoplasia, Spinal deformities OMIM:615084
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Waddling gait OMIM:618138
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Severe short stature, Caudal appe... OMIM:156530
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Ataxia, Impaired pain sensation ORPHA:2047
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Gait disturbance, Kyphosis, Short stature, Short neck, Hypoplasia of th... ORPHA:93314
Schaaf-Yang Syndrome
Inability to walk, Scoliosis, Polyphagia, Kyphosis, Short stature OMIM:615547
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Torticollis, Spinal rigidity, Frequent falls, Short neck ORPHA:75840
Cockayne Syndrome Type 2
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Ataxia, Limb hypertonia, Lower limb sp... ORPHA:90322
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Postnatal growth ret... ORPHA:309246
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Delayed puberty, Kyphosis ORPHA:2598
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Kyphosis, Torticollis, Distal sensory impairment, Broad-based gait OMIM:181405
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Dystonia, Platyspondyly, Tremor, Oral aversion, Abnormal form of the ve... ORPHA:354
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Scoliosis, Dysphagia, Kyphosis, Oculomotor apraxia, Short stature, Short neck,... OMIM:301041
Shashi-Pena Syndrome
Scoliosis, Kyphosis OMIM:617190
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Severe short stature, Vertebral segmentation defect ORPHA:2617
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum, Severe short stature OMIM:112350
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis, Oculomotor apraxia ORPHA:3454
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Intrauterine growth retardation OMIM:234250
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Abnormal pyramidal sign, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia ORPHA:453533
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Kyphosis, Toe walking, Back pain, Spinal rigidity, Wa... ORPHA:98863
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis, Short stature ORPHA:1858
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Pain insensitivity, Kyphosis, Cerebellar vermis hypoplasia, Retrocerebellar cyst, Myoc... ORPHA:364028
Kleefstra Syndrome 2
Scoliosis, Growth delay, Kyphosis OMIM:617768
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Growth delay, Kyphosis, Back pain, Lumbar hyperlordosis, Disproportiona... ORPHA:94068
Alexander Disease
Scoliosis, Hyperlordosis, Tremor, Chorea, Gait disturbance, Kyphosis, Abnormal pyramidal sign, Dy... ORPHA:58
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Mild short stature OMIM:130060
Widow'S Peak Syndrome
Kyphosis, Mild short stature, Short stature OMIM:314570
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Kyphosis, Toe walking, Back pain, Spinal rigidity, Wa... ORPHA:98855
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Toe walking, Kyphoscoliosis ORPHA:536516
Thanatophoric Dysplasia
Platyspondyly, Kyphosis, Intrauterine growth retardation, Hydrocephalus, Disproportionate short-l... ORPHA:2655
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Lumbar hype... OMIM:183900
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Dystonia, Apraxia, Kyphosis, Oculomotor apraxia, Short stature, Short n... OMIM:314580
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Kyphosis, Toe walking, Back pain, Spinal rigidity, Wa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Kyphosis, Toe walking, Back pain, Spinal rigidity, Wa... ORPHA:98853
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck, Short stature OMIM:616455
Uruguay Faciocardiomusculoskeletal Syndrome
Difficulty walking, Scoliosis, Kyphosis OMIM:300280
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Postnatal growth retardation, Spastic gait... OMIM:207800
Pseudoachondroplasia
Scoliosis, Platyspondyly, Childhood onset short-limb short stature, Hypoplasia of the odontoid pr... OMIM:177170
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Kyphosis, Short stature, Short neck OMIM:252605
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Platyspondyly, Growth delay, Kyphosis, Severe short stature, Waddling g... OMIM:251450
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis, Spastic paraplegia, Exaggerated startle response OMIM:609541
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Disproportionate short stature, Rhizomelia, Kyphosis, Severe short stature, Lumbar... OMIM:616482
3C Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Kyphosis, Death in infancy, Postnatal growth ret... ORPHA:7
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis, Disproportionate short-limb short stature OMIM:259440
Crisponi Syndrome
Scoliosis, Kyphosis, Hypertonia, Death in infancy ORPHA:1545
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Gait disturbance, Kyphosis, Spinal canal stenosis, Short... ORPHA:582
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Gait disturbance, Kyphosis, Spinal rigidity, Waddling gait, Short neck ORPHA:171436
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Kyphosis, Lumbar hyperlordosis, Disproportionate short-trunk short stat... OMIM:313400
Thanatophoric Dysplasia Type 2
Platyspondyly, Holoprosencephaly, Kyphosis, Short stature, Hydrocephalus ORPHA:93274
Mcdonough Syndrome
Scoliosis, Kyphosis, Short stature ORPHA:2471
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Short neck, Kyphosis OMIM:608776
Marden-Walker Syndrome
Scoliosis, Kyphosis, Cerebellar hypoplasia, Postnatal growth retardation, Inferior vermis hypopla... OMIM:248700
X-Linked Dominant Chondrodysplasia Punctata
Rhizomelia, Abnormal vertebral morphology, Short stature, Kyphosis ORPHA:35173
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Abnormality of extrapyramidal motor function, Progressive spastic quadriplegia, Kyphosi... ORPHA:521426
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Hyperlordosis, Gait ataxia, Kyphosis, Cerebellar atrophy, Hydrocephalus OMIM:617011
Micro Syndrome
Scoliosis, Kyphosis, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Delayed pubert... ORPHA:2510
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Kyphosis, Hypertonia, Death in infancy, Severe short stat... OMIM:230500
Brachyolmia Type 3
Scoliosis, Platyspondyly, Childhood-onset short-trunk short stature, Kyphosis, Short neck OMIM:113500
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis, Postnatal growth retardation, Short stature, Hydrocephalus OMIM:616294
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Short stature, Vertebral wedging OMIM:259450
Ruvalcaba Syndrome
Scoliosis, Delayed puberty, Short stature, Kyphosis OMIM:180870
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Thoracic kyphosis, Kyphosis, Postnatal gro... OMIM:223800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Short stature, Short neck, Fused cervical vertebrae ORPHA:2522
Coffin-Lowry Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormal form of the vertebral bodies, Gait dist... ORPHA:192
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis OMIM:615761
19P13.12 Microdeletion Syndrome
Scoliosis, Kyphosis, Aplasia/Hypoplasia of the cerebellar vermis, Hyperactivity, Intrauterine gro... ORPHA:254346
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Ataxia, Stereotypy, Short stature ORPHA:2479
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Abnormality of the inter... ORPHA:2311
2P15P16.1 Microdeletion Syndrome
Scoliosis, Dysphagia, Gait disturbance, Growth delay, Cerebellar hypoplasia, Kyphosis, Lower limb... ORPHA:261349
Rett Syndrome, Congenital Variant
Scoliosis, Dystonia, Apraxia, Chorea, Kyphosis, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Tremor, Kyphosis, Short stature, Hyperactivity, Short neck, Broad-based gait ORPHA:85293
Achondroplasia
Thoracolumbar kyphosis, Disproportionate short stature, Cervical spinal canal stenosis, Rhizomeli... ORPHA:15
Diastrophic Dwarfism
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Kyphosis, Intra... ORPHA:628
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Rhizomelia, Kyphosis, Short stature, Short neck ORPHA:3098
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Shor... ORPHA:763
Cole-Carpenter Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Short stature, Intrauterine growth re... ORPHA:2050
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Kyphosis, Short neck, Short stature ORPHA:3191
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis, Short stature ORPHA:2771
Isolated Oxycephaly
Arnold-Chiari malformation ORPHA:63440
16P13.2 Microdeletion Syndrome
Scoliosis, Gait disturbance, Kyphosis, Short stature, Hydrocephalus, Attention deficit hyperactiv... ORPHA:500055
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis, Short stature ORPHA:1883
Lateral Meningocele Syndrome
Scoliosis, Biconcave vertebral bodies, Kyphosis, Arnold-Chiari type I malformation, Vertebral fus... OMIM:130720
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Short stature, Spina bi... ORPHA:3219
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis OMIM:618484
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Trisomy 13
Intrauterine growth retardation, Scoliosis, Kyphosis, Arnold-Chiari malformation ORPHA:3378
Atkin-Flaitz Syndrome
Scoliosis, Kyphosis, Short stature OMIM:300431
Arthrogryposis, Distal, Type 4
Scoliosis, Torticollis, Lumbar scoliosis, Kyphosis OMIM:609128
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Kyphosis, Unsteady gait, Spasticity OMIM:615512
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Scoliosis, Kyphosis, Unsteady gait, Short stature OMIM:618493
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Severe short stature, Abnormal form of the vertebral bodies ORPHA:3344
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Hemivertebrae, Vertebral fusion, Shor... ORPHA:2916
Craniosynostosis 6
Scoliosis, Cerebellar atrophy, Dandy-Walker malformation, Spina bifida occulta OMIM:616602
Trisomy 20P
Scoliosis, Platyspondyly, Spina bifida, Incoordination, Abnormal form of the vertebral bodies, Ga... ORPHA:261318
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder ORPHA:261222
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis, Hydrocephalus ORPHA:2075
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Kyphosis, Meningocele, Arnold-Ch... ORPHA:2789
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... OMIM:253000
Alpha-Mannosidosis
Scoliosis, Kyphosis, Short neck ORPHA:61
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Thoracolumbar kyphosis, Disproportionate short stature, Cervical spinal canal ... ORPHA:508533
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis, Postnatal growth retardation, Short stature, Myelomeningocele ORPHA:94065
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Cervical subluxation, ... OMIM:253010
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Severe short stature, Moderate postnatal growth retardation, Intrauterine gr... ORPHA:1005
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Posterior scalloping of vertebral bodies, Abnormal form of the vertebral bodies, Gait ... ORPHA:3042
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Growth delay, Stereotypy, Kyphosis ORPHA:261144
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Hydrocephalus OMIM:603387
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis, Spasticity OMIM:616449
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Tremor, Gait ataxia, Kyphosis, Stereotypy, Attention deficit hyperactivity disorder ORPHA:476126
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Torticollis, Spinal rigidity, Kyphosis OMIM:254090
Ruvalcaba Syndrome
Scoliosis, Abnormality of vertebral epiphysis morphology, Kyphosis, Delayed puberty, Intrauterine... ORPHA:3121
Osteogenesis Imperfecta, Type Iii
Scoliosis, Disproportionate short-limb short stature, Biconcave vertebral bodies, Kyphosis, Neona... OMIM:259420
Frank-Ter Haar Syndrome
Scoliosis, Kyphosis, Beaking of vertebral bodies ORPHA:137834
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Neonatal short-trunk short stature, Kyphosis, S... ORPHA:93360
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck, Short stature ORPHA:3409
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Short neck, Spina bifida occulta ORPHA:2983
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Thanatophoric Dysplasia Type 1
Platyspondyly, Lethal short-limbed short stature, Kyphosis, Hydrocephalus, Abnormal sacroiliac jo... ORPHA:1860
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Kyphosis, Death in childhood, Stereotypy, Impaired pain sensation, Intrauterine growth... OMIM:619005
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Spondylolisthesis, Morbus Scheue... OMIM:108300
Marden-Walker Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Growth delay, Kyphosis, Cerebellar hypoplasia, ... ORPHA:2461
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck, Short stature ORPHA:3082
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Kyphosis, Short stature, Intrauterine growt... ORPHA:2616
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Mild short stature OMIM:169400
Cockayne Syndrome
Inability to walk, Scoliosis, Dense calcifications in the cerebellar dentate nucleus, Progressive... ORPHA:191
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Dysphagia, Kyphosis OMIM:617143
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Gait ataxia, Difficulty walking, Kyphosis, Cerebellar hypoplasia, Lumbar hyperlordosis, Kyphoscol... ORPHA:457359
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Olivopontocerebellar hypoplasia, Ataxia OMIM:212065
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis, Short stature ORPHA:261190
Monosomy 9Q22.3
Abnormality of the vertebral column, Kyphosis, Arnold-Chiari malformation, Hyperactivity, Short n... ORPHA:77301
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Mucopolysaccharidosis, Type Ii
Mild short stature, Kyphosis, Severe short stature, Short stature, Short neck, Hydrocephalus OMIM:309900
Hurler Syndrome
Short neck, Biconcave vertebral bodies, Kyphosis, Short stature, C1-C2 subluxation, Hydrocephalus... OMIM:607014
Cerebrocostomandibular Syndrome
Spina bifida, Kyphosis, Death in infancy, Meningocele, Hydranencephaly, Short stature, Intrauteri... ORPHA:1393
Prader-Willi Syndrome
Scoliosis, Polyphagia, Kyphosis, Poor fine motor coordination, Delayed puberty, Short stature, Im... OMIM:176270
Cowden Syndrome 1
Scoliosis, Dysplastic gangliocytoma of the cerebellum, Kyphosis, Intention tremor OMIM:158350
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Short stature OMIM:607015
Trisomy 9P
Scoliosis, Kyphosis, Short neck, Sacral dimple ORPHA:236
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormality of extrapyramidal motor function, Dysphagia, Kyphosis, Hypertonia, Abnormal pyramidal... OMIM:617527
Osteogenesis Imperfecta
Scoliosis, Paresthesia, Hydrocephalus, Abnormal form of the vertebral bodies, Biconcave vertebral... ORPHA:666
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Tremor, Speech apraxia, Kyphosis, Cerebellar hypoplasia, Ataxia, Delayed puberty, Kyph... OMIM:300967
Cockayne Syndrome B
Tremor, Normal pressure hydrocephalus, Kyphosis, Severe short stature, Postnatal growth retardati... OMIM:133540
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Lethargy, Polyphagia, Kyphosis, Impaired temperature sensation, Short stature ORPHA:398069
Emanuel Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis OMIM:609029
Distal Tetrasomy 15Q
Scoliosis, Kyphosis, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Mend Syndrome
Kyphosis, Sacral dimple, Limb hypertonia, Short stature, Hyperactivity, Hydrocephalus, Dandy-Walk... ORPHA:401973
Cockayne Syndrome A
Tremor, Normal pressure hydrocephalus, Gait disturbance, Kyphosis, Ataxia, Intrauterine growth re... OMIM:216400
Spondyloenchondrodysplasia
Platyspondyly, Chorea, Kyphosis, Disproportionate short-trunk short stature, Short stature, Spast... ORPHA:1855
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Anterior beaking of lumbar vertebrae, Spastic tetraplegia, Spa... ORPHA:349
Harrod Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis ORPHA:2115
Wolf-Hirschhorn Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormality of the vertebral column, Abnormal ve... ORPHA:280
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Gait disturbance, Kyphosis, Blepharospasm, Hypertonia, D... ORPHA:800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis, Attention deficit hyperactivity disorder ORPHA:404440
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Kyphosis, Short stature, Short neck ORPHA:1798
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Biconcave flattened vertebrae, Short stature OMIM:166220
Cockayne Syndrome Type 3
Scoliosis, Dense calcifications in the cerebellar dentate nucleus, Difficulty walking, Kyphosis, ... ORPHA:90324
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abnormality of the vertebral column, Kyphosis, Hemivertebrae, Spinal rigidity, Abnorma... ORPHA:2062
Cowden Syndrome
Scoliosis, Kyphosis, Ataxia, Abnormal cerebellum morphology, Short stature ORPHA:201
Acro-Renal-Mandibular Syndrome
Scoliosis, Kyphosis, Hemivertebrae, Intrauterine growth retardation, Short neck, Butterfly vertebrae ORPHA:958
Mucopolysaccharidosis Type 6
Disproportionate short-trunk short stature, Ovoid vertebral bodies, Short neck, Kyphosis ORPHA:583
Koolen-De Vries Syndrome
Scoliosis, Kyphosis, Sacral dimple, Spondylolisthesis, Vertebral fusion, Short stature, Hyperacti... OMIM:610443
Cono-Spondylar Dysplasia
Scoliosis, Kyphosis, Short neck, Poor coordination ORPHA:420794
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Polyphagia OMIM:300942
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Koolen-De Vries Syndrome
Scoliosis, Kyphosis, Vertebral fusion, Short stature, Vertebral segmentation defect ORPHA:96169
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Gait disturbance, Kyphosis, Birth length less than 3rd percentile, Abnormality of the ... ORPHA:464311
Cowden Syndrome 5
Scoliosis, Kyphosis, Intention tremor OMIM:615108
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cerebellar vermis hypoplasia OMIM:619123
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Scoliosis, Difficulty walking, Kyphosis, Spasticity ORPHA:464738
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Coronal cleft vertebrae, Rhizomelia, Kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:143095
Cowden Syndrome 6
Scoliosis, Kyphosis, Intention tremor OMIM:615109
Neurofibromatosis Type 1
Scoliosis, Paresthesia, Kyphosis, Ataxia, Delayed puberty, Short stature, Hydrocephalus, Attentio... ORPHA:636
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Gait disturbance, Kyphosis, Short stature, Hyperactivity, Intrauterine growth retardat... ORPHA:464306
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Kyphosis, Short stature, Short neck ORPHA:140
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Kyphosis, Unsteady gait, Myoclonus, Short stature, Kyphoscoliosis, Involuntary... ORPHA:3063
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Dysphagia, Gait disturbance, Kyphosis, Hypertonia, Ataxia, Sacral dimple, Short statur... ORPHA:268261
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Kyphosis, Hydrocephalus OMIM:616914
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Hyperlordosis, Spina bifida, Cervical spinal canal stenosis, Speech apraxia, Kyphosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Hyperlordosis, Spina bifida, Cervical spinal canal stenosis, Speech apraxia, Kyphosis,... ORPHA:363958
Camurati-Engelmann Disease
Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Kyphosis, Ataxia, Delayed puberty,... ORPHA:1328
16Q24.3 Microdeletion Syndrome
Scoliosis, Dysphagia, Kyphosis ORPHA:261250
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Kyphosis, Hemivertebrae, Short stature, Short neck OMIM:618223
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis, Severe short stature ORPHA:2215
Spondyloperipheral Dysplasia
Platyspondyly, Kyphosis, Short stature OMIM:271700
Smith-Lemli-Opitz Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Abnormal form of the vertebral bodies, Rhizomeli... ORPHA:818
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Short stature OMIM:239000
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Impaired temperature sensation, Sacral dimple, Kyphoscoliosis, Thoracic scoliosis ORPHA:536532
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Kyphosis, Delayed pubert... ORPHA:955
Alstrom Syndrome
Scoliosis, Kyphosis, Short stature OMIM:203800
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta, Dandy-Walker malformation, Hypoplasia of the pons OMIM:618736
Mucolipidosis Type Ii
Inability to walk, Kyphosis, Short stature, Postnatal growth retardation ORPHA:576
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Kyphosis, Vertebral compression fracture, Disproportionate short-limb s... OMIM:610915
Weaver Syndrome
Scoliosis, Kyphosis, Hypertonia, Slurred speech, Spasticity OMIM:277590
Cohen Syndrome
Scoliosis, Kyphosis, Delayed puberty, Short stature, Intrauterine growth retardation ORPHA:193
Zttk Syndrome
Scoliosis, Growth delay, Kyphosis, Cerebellar hypoplasia, Hemivertebrae, Short stature, Intrauter... OMIM:617140
Gaucher Disease Type 1
Delayed puberty, Vertebral compression fracture, Kyphosis, Growth delay ORPHA:77259
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Mosaic Trisomy 20
Scoliosis, Kyphosis, Vertebral segmentation defect, Vertebral fusion, Spinal canal stenosis, Intr... ORPHA:1724
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Anterior clefting of vertebral bodies, Kyphosis, Short stature, Fused cervical vertebrae OMIM:265000
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Short stature ORPHA:1969
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Kyphosis, Sacral dimple, Short stature, Short neck OMIM:616894
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Spondyloarthropathy, Susceptibility To, 1
Kyphosis, Sacroiliac arthritis, Back pain OMIM:106300
1P36 Deletion Syndrome
Scoliosis, Polyphagia, Dysphagia, Gait disturbance, Kyphosis, Hemiplegia/hemiparesis, Spinal cana... ORPHA:1606
Coffin-Siris Syndrome 1
Scoliosis, Gait ataxia, Kyphosis, Postnatal growth retardation, Sacral dimple, Short stature, Spi... OMIM:135900
Williams Syndrome
Scoliosis, Hyperlordosis, Tremor, Involuntary movements, Abnormal form of the vertebral bodies, A... ORPHA:904
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Short stature, Kyphosis ORPHA:568
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Non-Specific Syndromic Intellectual Disability
Scoliosis, Speech apraxia, Kyphosis, Impaired tandem gait, Attention deficit hyperactivity disorder ORPHA:528084