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Gene: Zic1 MGI:106683

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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
Craniosynostosis 6
Cerebellar atrophy, Scoliosis, Spina bifida occulta, Dandy-Walker malformation OMIM:616602
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Scoliosis, Spina bifida occulta, Dandy-Walker malformation OMIM:618736
Non-Syndromic Bicoronal Craniosynostosis
ORPHA:35099

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
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Hypotonia, Generalized hypotonia, Abasia OMIM:209100
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia, Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Posterior Column Ataxia
Impaired vibratory sensation, Scoliosis, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Dysphagia, Tremor, Cerebellar atrophy OMIM:615945
Spinocerebellar Ataxia Type 30
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia ORPHA:211017
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Scoliosis, Ataxia, Cerebellar hypoplasia OMIM:213000
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Autosomal Spastic Paraplegia Type 30
Distal sensory impairment, Somatic sensory dysfunction, Unsteady gait, Ataxia, Progressive spasti... ORPHA:101010
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Hypotonia, Inability to walk, Appendicular hypotonia, Ataxia OMIM:619333
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination ORPHA:98766
Spinocerebellar Ataxia Type 41
Gait ataxia, Cerebellar vermis atrophy ORPHA:458798
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Cerebellar atrophy, Trunca... OMIM:615268
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia 43
Distal sensory impairment, Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia, Cerebellar vermis ... OMIM:617018
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Dysphagia, Cerebellar atrophy, Craniofacial dystonia,... OMIM:611694
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, Progressive gait ataxi... ORPHA:284332
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Intention tremor, Cerebellar hypoplasia, Truncal ataxia OMIM:601238
Cerebellar Ataxia, Cayman Type
Nonprogressive cerebellar ataxia, Broad-based gait, Gait ataxia, Intention tremor, Cerebellar hyp... ORPHA:94122
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Cerebellar hypoplasia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Ataxia, Unsteady gait, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Frequent falls, Ataxia, Impaired distal vibration sensation, Chiari type I malformati... OMIM:619742
Spinocerebellar Ataxia 35
Torticollis, Difficulty walking, Ataxia, Pseudobulbar paralysis, Loss of ambulation, Impaired pro... OMIM:613908
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy ORPHA:217012
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Gait disturbance, Inability to walk, Ankle clonus, Kyphosis, Spastic paraplegia, Upper... OMIM:611225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Unsteady gait, Ataxia, Lower limb spasticity, Intention tremor, Cerebell... OMIM:616948
Lichtenstein-Knorr Syndrome
Limb ataxia, Ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, A... OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Ataxia, Clumsiness, Short stature, Gait ataxia, Intention tremor, Cerebellar atrophy,... OMIM:608029
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Thoracic kyphosis, Ataxia, Short stature, ... OMIM:610185
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Cerebellar atrophy, Trun... OMIM:604432
Spinocerebellar Ataxia Type 37
Gait disturbance, Somatic sensory dysfunction, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Spasti... ORPHA:423275
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Ataxia, Gait ataxia, Growth delay, Babinski sign, Cerebellar atrophy, Lower limb spa... OMIM:614322
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Dysphagia, Cerebellar atrophy, Truncal ataxia ORPHA:284271
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Cerebellar atrophy, Dysmetria OMIM:617917
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Intention tremor, Myoclonus, Cerebellar atrophy, Cerebellar vermis hypoplasia OMIM:618876
Spinocerebellar Ataxia Type 35
Limb ataxia, Torticollis, Progressive cerebellar ataxia, Difficulty walking, Pseudobulbar paralys... ORPHA:276193
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dysarthria, ... ORPHA:314978
Dentatorubral-Pallidoluysian Atrophy
Parkinsonism, Ataxia, Chorea, Atrophy of the dentate nucleus, Myoclonus, Choreoathetosis, Dystonia OMIM:125370
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Unsteady gait, Agitation, Ankle clonus, Kyphosis,... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Cerebellar hypoplasia, Babinski sig... OMIM:615768
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Attention deficit hyperact... OMIM:605361
Spinocerebellar Ataxia, Autosomal Recessive 15
Gait ataxia, Cerebellar atrophy, Unsteady gait, Ataxia OMIM:615705
Dystonia 23
Limb dystonia, Torticollis, Gait disturbance, Axial dystonia, Writer's cramp, Head tremor, Myoclo... OMIM:614860
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Upper limb dysmetria, Hand tremor, Ankle clonus, Impaired vibration sensation in the l... OMIM:614409
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Cerebellar vermis atrophy, Myoclonus OMIM:615957
X-Linked Progressive Cerebellar Ataxia
Frequent falls, Scoliosis, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Clumsiness,... ORPHA:1175
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Loss of ambulation, Cerebellar atrophy, Ataxia OMIM:600143
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Scoliosis, Limb ataxia, Kyphosis, Abnormality of extrapyramidal motor function, Gait ... OMIM:610743
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... ORPHA:98762
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spasticity, Scoliosis, Progressive cerebellar ataxia, Spastic dysarthria, Spastic ataxia, Gait at... ORPHA:314603
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Tremor ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Unsteady gait, Impaired distal vibration sensation, Dysdiadochok... OMIM:617633
Masa Syndrome
Hydrocephalus, Lower limb spasticity, Kyphosis, Short stature, Spastic paraplegia, Paraplegia, Hy... OMIM:303350
Spinocerebellar Ataxia, Autosomal Recessive 17
Frequent falls, Limb ataxia, Dystonia, Unsteady gait, Ataxia, Oculomotor apraxia, Clumsiness, Gai... OMIM:616127
Mast Syndrome
Gait disturbance, Apraxia, Athetosis, Dysphagia, Dysdiadochokinesis, Spastic paraplegia, Babinski... OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Gait disturbance, Ataxia, Dysphagia, Cerebellar vermis atrophy, Cerebellar atrophy, ... OMIM:614229
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Ankle clonus, Spastic paraplegia, Spastic gait, Babinski sign, Cerebellar atrophy, Lower ... OMIM:610357
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Inability to walk, Lumbar hyperlordosis, Ataxia, Dystonia, Lower limb spasticity, Kyph... OMIM:616756
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia 44
Spasticity, Frequent falls, Ataxia, Dysdiadochokinesis, Dysphagia, Gait ataxia, Cerebellar atroph... OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Short stature, Tremor, Gait ataxia, Cerebellar ve... OMIM:213200
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Ataxia, Loss of ambulation, Dysphagia, Positive Romberg sign, Babinski sign, Cerebell... OMIM:618088
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Cerebellar atrophy, Dysmetria OMIM:607458
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Ataxia, Isometric tremor, Upper limb postural tremor, Ga... ORPHA:101110
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Inability to walk, Torticollis, Blepharospasm, Generalized dystonia, Kyphosis, Writer'... OMIM:128100
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Progressive spastic paraplegia, Tip-toe gait, Dysphagia, Cerebellar atrophy, Babinski sign, Kypho... ORPHA:496689
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cerebellar atrophy,... OMIM:615386
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Tremor ORPHA:101078
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Rigidity, Tremor, Gait ataxia, Cerebellar atr... OMIM:618090
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Inferior cerebellar vermis hypoplasia, Short stature, Dysdiadochokinesis, Gait ataxia, Intention ... OMIM:224050
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Rigidity, Dysdiadochokinesis ORPHA:228169
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Scoliosis, Ankle clonus, Loss of ambulation, Scissor gait, Tremor, Brad... ORPHA:521406
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Impulsivity, Myoclonus, Cerebellar atrophy, Lower limb spas... OMIM:619028
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Gait disturbance, Falls, Action myoclonus, Myoclonus, Cerebellar atrophy, Choreoathe... OMIM:616230
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Postural tremor, Dysphagia, Gait a... OMIM:607346
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Frequent falls, Limb dystonia, Torticollis, Small for gestational age, Ataxia, Cerebellar vermis ... OMIM:619054
Spinocerebellar Ataxia 46
Limb ataxia, Gait ataxia, Positive Romberg sign, Cerebellar atrophy, Dysmetria OMIM:617770
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Ataxia, Ankle clonus, Impaired vibration sensation in the lower limbs, Spastic parapleg... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 10
Limb ataxia, Gait ataxia, Intention tremor, Fasciculations, Babinski sign, Cerebellar atrophy, Tr... OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inferior cerebellar vermis hypoplasia, Inability to walk, Retrocerebella... OMIM:614831
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Unsteady gait, Ataxia, Kyphosis, Cerebellar atrophy OMIM:300861
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Cerebellar atrophy ORPHA:85317
Roussy-Lévy Syndrome
Impaired pain sensation, Frequent falls, Scoliosis, Somatic sensory dysfunction, Limb ataxia, Uns... ORPHA:3115
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Difficulty walking, Clumsiness, P... ORPHA:284324
Spinocerebellar Ataxia 49
Unsteady gait, Ataxia, Loss of ambulation, Abnormality of extrapyramidal motor function, Dysdiado... OMIM:619806
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Short stature, Spinal rigidity, Hyperlordosi... OMIM:617404
Spinocerebellar Ataxia 4
Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria, Babinski sign, Cerebell... OMIM:600223
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Attention deficit hyperactivity disorder, Kyphosis, Short stature, Tongue fasciculations OMIM:620007
Spinocerebellar Ataxia, Autosomal Recessive 18
Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar vermis atrophy, Babinski ... OMIM:616204
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Intrauterine growth retardation, Kyphosis, Neonatal death, Cerebellar atroph... OMIM:618237
Neurodegeneration With Brain Iron Accumulation 7
Ataxia, Lower limb spasticity, Loss of ambulation, Dysphagia, Tremor, Cerebellar atrophy, Dystoni... OMIM:617916
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Loss of Purkinje cells in the ce... OMIM:616795
Spinocerebellar Ataxia 29
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Truncal titubation, Dysdiado... OMIM:117360
Spinocerebellar Ataxia Type 26
Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Progressive gait ataxia,... ORPHA:101112
Juvenile Huntington Disease
Dystonia, Progressive cerebellar ataxia, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Br... ORPHA:248111
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Spastic Paraplegia 53, Autosomal Recessive
Gait disturbance, Upper limb hypertonia, Clonus, Kyphosis, Impaired vibratory sensation, Spastic ... OMIM:614898
Spinocerebellar Ataxia 26
Limb ataxia, Gait ataxia, Cerebellar atrophy, Incoordination, Truncal ataxia OMIM:609306
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Spasticity, Abnormal pyramidal sign, Inability to walk, Hyperactivity, L... ORPHA:500180
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Abnormal pyramidal sign, Abnormal pons morphology, Progressive cerebellar ataxia, Ata... ORPHA:98
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Frequent falls, Difficulty walking, Gait ataxia, Intention tremor, Cerebellar vermis atrophy, Poo... ORPHA:512260
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Failure to thrive, Tremor, Myoclonus, Cerebellar atrophy OMIM:616494
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Cachexia, Chorea, Tremor, Gait ataxia, Babinski sign, Cerebellar atrophy, D... OMIM:618093
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Scoliosis, Gait disturbance, Ataxia, Paraparesis, Kyphosis, Tremor ORPHA:99014
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Urocanase Deficiency
Ataxia, Broad-based gait, Short stature, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Gait disturbance, Oculomotor apraxia, Ataxia, Dysdiadochoki... OMIM:617145
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Scoliosis, Ataxia, Loss of ambulation, Spastic ataxia, Gait ataxia, Cerebellar vermis... OMIM:611390
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Clumsiness, Postural tremor, Truncal titu... OMIM:609270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Scoliosis, Kyphosis, Difficulty walking OMIM:617087
Lissencephaly, X-Linked, 1
Spasticity, Postnatal growth retardation, Death in infancy, Ataxia OMIM:300067
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Dystonia, Ataxia, Apraxia, Rigidity, Chorea, Dysphagia, Positive Rombe... OMIM:607136
Gm1-Gangliosidosis, Type Iii
Scoliosis, Ataxia, Kyphosis, Short stature, Platyspondyly, Slurred speech, Anterior beaking of lu... OMIM:230650
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Intention tremor, Cerebellar vermis ... ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Limb ataxia, Somatic sensory dysfunction, Torticollis, Postural tremor, Dysphagia... OMIM:619862
Behr Syndrome
Frequent falls, Progressive spasticity, Gait disturbance, Unsteady gait, Ataxia, Dysphagia, Tremo... OMIM:210000
Spinocerebellar Ataxia 5
Limb ataxia, Ataxia, Ankle clonus, Dysdiadochokinesis, Gait ataxia, Impaired vibratory sensation,... OMIM:600224
Spinocerebellar Ataxia 6
Frequent falls, Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Ataxia, Loss of ... OMIM:183086
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Severe short stature, Short neck OMIM:168400
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Progressive cerebellar ataxia, Progressive gait ataxia, Dysdiadochokinesis, Intention... ORPHA:352403
Spastic Paraplegia 20, Autosomal Recessive
Impaired vibration sensation at ankles, Difficulty walking, Ankle clonus, Short stature, Dysphagi... OMIM:275900
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Distal sensory impairment, Scoliosis, Unsteady gait, Ataxia, Loss of amb... OMIM:618124
Spinocerebellar Ataxia 27B, Late-Onset
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy OMIM:620174
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Scoliosis, Gait disturbance, Ataxia, Clumsiness, Ankle clonus, Kyphosis, Impaired vib... ORPHA:88644
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Limb ataxia, Poor coordination, Ataxia, Difficulty walkin... ORPHA:98772
Spinocerebellar Ataxia Type 17
Spasticity, Abnormal pyramidal sign, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Blephar... ORPHA:98759
Atypical Rett Syndrome
Impaired pain sensation, Spasticity, Limb myoclonus, Scoliosis, Inability to walk, Gait disturban... ORPHA:3095
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Truncal ataxia OMIM:606658
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Kyphoscoliosis, Ataxia OMIM:619099
Brachyolmia Type 1, Toledo Type
Gait disturbance, Irregular vertebral endplates, Short neck, Childhood-onset short-trunk short st... OMIM:271630
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Short stature, Dilated fourth ventricle, Tremor, Gait ata... ORPHA:1170
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Dysphagia, Spastic ataxia, Myoclonus,... OMIM:614487
Spondyloepiphyseal Dysplasia, Stanescu Type
Vertebral wedging, Short stature, Platyspondyly, Beaking of vertebral bodies, Waddling gait, Kyph... OMIM:616583
Ataxia-Telangiectasia-Like Disorder
Frequent falls, Oculomotor apraxia, Ataxia, Short stature, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:251347
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Lower limb spasticity, Steppage gait, Tip-toe gait, Kyphosis, Waddling gait, Fascicula... OMIM:615290
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Cerebellar vermis atrophy, Action tremor, ... OMIM:620158
Cdkl5-Deficiency Disorder
Impaired pain sensation, Scoliosis, Gait disturbance, Difficulty walking, Kyphosis, Growth delay ORPHA:505652
Autosomal Recessive Spastic Paraplegia Type 53
Limb dystonia, Upper limb hypertonia, Clonus, Impaired proprioception, Kyphosis, Impaired vibrato... ORPHA:319199
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormal pyramidal sign, Paresthesia, Scoliosis, Ataxia, Intrauterine growth retardation, Kyphosi... ORPHA:48431
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Ce... ORPHA:98764
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Disp... ORPHA:40
Marinesco-Sjogren Syndrome
Spasticity, Scoliosis, Limb ataxia, Ataxia, Cerebellar cortical atrophy, Kyphosis, Short stature,... OMIM:248800
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Tip-toe ... ORPHA:397946
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Hypoplasia of the pons, Spastic dysarthria, Rigid... ORPHA:98760
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Action tremor, Growth de... OMIM:619738
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Progressive spastic paraplegia, Babinski sign, Cerebellar atrophy OMIM:612020
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Pontine T2 hypointensity, Loss of Purkinje cells in the cerebellar ve... OMIM:270550
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Limb ataxia, Limb myoclonus, Hand tremor, Ataxia... ORPHA:276198
Spinocerebellar Ataxia 2
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Dysdiadochokinesis, Fasciculations, Olivopo... OMIM:183090
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Dysphagia, Tremor, Myoclonus, Postnatal growth retardation, C... ORPHA:391417
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Scoliosis, Unsteady gait, Ataxia, Difficulty walking, Lower limb spasticity, Progress... ORPHA:464282
Ataxia-Telangiectasia-Like Disorder 1
Frequent falls, Oculomotor apraxia, Unsteady gait, Ataxia, Lower limb spasticity, Chorea, Dysdiad... OMIM:604391
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Tremor, Cerebellar... OMIM:608768
Episodic Ataxia Type 1
Scoliosis, Poor coordination, Clumsiness, Tip-toe gait, Kyphoscoliosis, Hypertonia, Cerebellar at... ORPHA:37612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Frequent falls, Scoliosis, Vertebral fusion, Difficulty walking, Cerebellar cyst, Tip-toe gait, K... OMIM:606612
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Inability to walk, Difficulty walking, Short neck, Kyphosis, Neonatal death, Dystonia OMIM:611890
Spinocerebellar Ataxia 10
Abnormal pyramidal sign, Distal sensory impairment, Limb ataxia, Progressive cerebellar ataxia, L... OMIM:603516
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Disproportionate short-trunk short stature, Kyphosis, Squared-off platyspo... OMIM:271530
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Waddling gait, Short stature OMIM:618392
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hyperactivity, Short stature ORPHA:85288
Spinocerebellar Ataxia 36
Limb ataxia, Ataxia, Babinski sign, Dysphagia, Gait ataxia, Fasciculations, Tongue fasciculations... OMIM:614153
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Spinocerebellar Ataxia 34
Spasticity, Abnormal pyramidal sign, Limb ataxia, Ataxia, Dysdiadochokinesis, Gait ataxia, Intent... OMIM:133190
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Spinocerebellar Ataxia 21
Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Cogwheel rigidity, Postural tre... OMIM:607454
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Inability to walk, Death in infancy, Dysphagia, Cerebellar atrophy, Tremor, Kyphoscol... OMIM:617664
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Ataxia, Ankle clonus, Exaggerated startle response, Fasciculations, Spas... OMIM:618598
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Tremor, Cerebellar atrophy, Dysmetria OMIM:619405
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Hyperactivity, Short stature OMIM:300434
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Scoliosis, Ataxia, Clumsiness, Ankle clonus, Kyphosis, Dysphagia, Abnormal ce... OMIM:211530
Primary Dystonia, Dyt4 Type
Torticollis, Gait disturbance, Blepharospasm, Generalized dystonia, Upper limb postural tremor, D... ORPHA:98805
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Scoliosis, Short neck, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:300718
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Gait disturbance, Hydrocephalus, Hemiplegia, Kyphosis ORPHA:2181
Ataxia-Oculomotor Apraxia 4
Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Impaired vibratory sensation, Tetraplegia, C... OMIM:616267
Myasthenic Syndrome, Congenital, 25, Presynaptic
Dysphagia, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Autosomal Recessive Spastic Paraplegia Type 39
Gait ataxia, Spastic paraplegia, Babinski sign, Cerebellar atrophy, Lower limb spasticity ORPHA:139480
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Hyperactivity, Broad-based gait, Lower limb spasticity, Short stature, Tremor, Rest... ORPHA:3077
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Kyphosis ORPHA:1875
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Somatic sensory dysfunction, Oculomotor apraxia, Ataxia, Postural tremor... ORPHA:64753
Pontocerebellar Hypoplasia, Type 17
Spastic tetraplegia, Limb hypertonia, Hypoplasia of the pons, Intrauterine growth retardation, Ky... OMIM:619909
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, S... ORPHA:99750
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Gait disturbance, Kyphosis ORPHA:2429
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature OMIM:618453
Srd5A3-Cdg
Abnormal sacrum morphology, Ataxia, Kyphosis, Abnormal cerebellum morphology, Cerebellar atrophy,... ORPHA:324737
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Inability to walk, Ankle clonus, Kyphosis, Exaggerated startle response, Spastic parap... OMIM:609541
Stuve-Wiedemann Syndrome 2
Scoliosis, Death in adolescence, Intrauterine growth retardation, Neonatal death, Dysphagia, Stil... OMIM:619751
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Ataxia, Cerebellar cortical atrophy, ... ORPHA:247234
Ataxia With Vitamin E Deficiency
Gait disturbance, Progressive cerebellar ataxia, Ataxia, Clumsiness, Impaired proprioception, Dys... OMIM:277460
Jaberi-Elahi Syndrome
Scoliosis, Inability to walk, Dystonia, Kyphosis, Tremor, Gait ataxia, Cerebellar vermis atrophy,... OMIM:617988
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Unsteady gait, Difficulty walking, Axial dystonia, Limb tremor, Focal dystonia, Writ... ORPHA:420492
Fetal Akinesia Deformation Sequence 4
Prenatal death, Kyphosis, Neonatal death, Short neck OMIM:618393
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hyperactivity, Kyphosis, Short stature, Tremor, Gait ataxia, Cerebellar vermis a... OMIM:300354
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Hypoplasia of t... OMIM:609813
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Death in infancy, Kyphosis, Disproportionate short stature,... ORPHA:1354
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Baralle-Macken Syndrome
Spasticity, Inability to walk, Kyphosis, Dystonia OMIM:619255
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Paresthesia, Babinski sign, Cogwheel rigidity, Oculogyric crisis, Kyphos... ORPHA:97349
Pelizaeus-Merzbacher Disease
Spasticity, Scoliosis, Gait disturbance, Ataxia, Kyphosis, Short stature, Choreoathetosis, Dystonia ORPHA:702
Autosomal Recessive Spastic Paraplegia Type 35
Frequent falls, Oculomotor apraxia, Pontocerebellar atrophy, Difficulty walking, Ankle clonus, Ge... ORPHA:171629
Sialidosis Type 2
Kyphosis, Short stature, Ataxia, Tremor ORPHA:87876
Dystonia, Juvenile-Onset
Leg dystonia, Pseudobulbar paralysis, Loss of ambulation, Oculogyric crisis, Generalized dystonia... OMIM:607371
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibration sensation in the... ORPHA:88628
Idiopathic Juvenile Osteoporosis
Gait disturbance, Kyphosis, Vertebral compression fracture ORPHA:85193
Sialidosis Type 1
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Short stature, Tremor, Slurred speech, Myoclonus, ... ORPHA:812
Metatropic Dysplasia
Scoliosis, Severe short stature, Hydrocephalus, Kyphosis, Hypoplastic cervical vertebrae, Abnorma... ORPHA:2635
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Scoliosis, Scheuermann-like vertebral changes, Kyphosis, Short stature, Cervical... OMIM:301900
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Spastic tetraplegia, Ataxia, Hydrocephalus, Difficulty walking, Kyphosis, Rigidity, C... OMIM:618476
Myopathy, Centronuclear, 2
Scoliosis, Intrauterine growth retardation, Kyphosis, Waddling gait, Hyperlordosis OMIM:255200
Rett Syndrome
Spasticity, Scoliosis, Dystonia, Kyphosis, Short stature, Gait apraxia, Gait ataxia, Truncal ataxia OMIM:312750
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Scoliosis, Inability to walk, Unsteady gait, Ataxia, Thoracolumbar scoliosis, Short s... OMIM:618443
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Frequent falls, Scoliosis, Vertebral fusion, Difficulty walking, Tip-toe gait, Kyphosis, Waddling... OMIM:607155
4Q21 Microdeletion Syndrome
Scoliosis, Short neck, Intrauterine growth retardation, Kyphosis, Tremor, Cerebellar hypoplasia, ... ORPHA:238750
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Short stature ORPHA:276630
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Hyperactivity, Intrauterine growth retardation, Short stature, Kyphosis, Cerebral pals... OMIM:615834
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Scoliosis, Gait disturbance, Prominent coccyx, Short neck, Ataxia, Attention deficit ... OMIM:300966
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Scoliosis, Hyperactivity, Attention deficit hyperactivity disorder, Short stature, Ky... ORPHA:352490
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Dysphagia, Intention tremor, Cerebella... OMIM:619708
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Cerebellar atrophy, Short stature, Hyperlordosis ORPHA:3085
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Lumbar hyperlordosis, Severe short stature, Thoracic kyphosis, Gait disturbance, Abnor... ORPHA:93314
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Short stature, Cerebellar hypoplasia, Postnatal growth retardation, Dystonia OMIM:616113
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Impaired vibration sensation at ankles, Postural tremor, Tip-toe gait, Short stature,... ORPHA:447760
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia, Short stature ORPHA:816
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Short stature, Platyspondyly ORPHA:2786
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Scoliosis, Generalized dystonia, Short stature, Kyphosis, Dysphagia ORPHA:79107
Winchester Syndrome
Kyphosis OMIM:277950
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Dysphagia, Neuropathic spinal arthropathy, Cerebellar atrophy ORPHA:352447
Smith-Mccort Dysplasia 1
Scoliosis, Short neck, Disproportionate short-trunk short stature, Short stature, Atlantoaxial in... OMIM:607326
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Lumbar hyperlordosis, Short neck, Disproportionate short-trunk short stature, Kyphosis... OMIM:313400
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Kyphosis OMIM:618138
Flynn-Aird Syndrome
Impaired pain sensation, Scoliosis, Kyphosis, Ataxia ORPHA:2047
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Severe short stature, Platyspondyly OMIM:313420
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Kyphosis, Spinal rigidity OMIM:615084
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Disprop... OMIM:253000
Schaaf-Yang Syndrome
Polyphagia, Scoliosis, Inability to walk, Short stature, Kyphosis, Impulsivity OMIM:615547
Polyendocrine-Polyneuropathy Syndrome
Abnormal pyramidal sign, Ataxia, Cerebellar hypoplasia, Postnatal growth retardation, Dystonia ORPHA:453533
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Cerebellar atrophy, Kyphosis OMIM:619797
Scapuloperoneal Spinal Muscular Atrophy
Distal sensory impairment, Scoliosis, Torticollis, Kyphosis, Hyperlordosis, Broad-based gait OMIM:181405
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Scoliosis, Torticollis, Short neck, Kyphosis, Spinal rigidity ORPHA:75840
Ck Syndrome
Kyphosis, Scoliosis, Hyperactivity, Hyperlordosis OMIM:300831
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Gm1 Gangliosidosis
Spasticity, Scoliosis, Gait disturbance, Unsteady gait, Ataxia, Decerebrate rigidity, Generalized... ORPHA:354
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Scoliosis, Lumbar hyperlordosis, Short neck, Ovoid vertebral bodies, Kyphosi... OMIM:183900
Cockayne Syndrome Type 2
Scoliosis, Gait disturbance, Ataxia, Difficulty walking, Limb hypertonia, Intrauterine growth ret... ORPHA:90322
Argininemia
Frequent falls, Hyperactivity, Progressive spastic quadriplegia, Spastic gait, Postnatal growth r... OMIM:207800
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Scoliosis, Inability to walk, Oculomotor apraxia, Short neck, Short stature, Kyphosis... OMIM:301041
Kleefstra Syndrome 2
Scoliosis, Kyphosis, Growth delay OMIM:617768
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Severe short stature, Horizontal sacrum OMIM:112350
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Scoliosis, Retrocerebellar cyst, Kyphosis, Short stature, Pain insensitivity, Myoclon... ORPHA:364028
Metatropic Dysplasia
Long coccyx, Scoliosis, Severe short stature, Disproportionate short-trunk short stature, Relativ... OMIM:156530
Alg1-Cdg
Scoliosis, Cerebellar atrophy, Kyphosis ORPHA:79327
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Oculomotor apraxia, Kyphosis ORPHA:3454
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Irregular vertebral endplates, Intrauterine growth retardation, Kyphosis, Platyspondyly OMIM:234250
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Severe short stature, Kyphosis, Vertebral segmentation defect, Hypertonia ORPHA:2617
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis, Short stature ORPHA:1858
Alexander Disease
Spasticity, Abnormal pyramidal sign, Scoliosis, Gait disturbance, Ataxia, Short neck, Hydrocephal... ORPHA:58
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Gait disturbance, Short neck, Tip-toe gait, Kyphosis, Spinal rigidity, Waddling gait, ... ORPHA:98863
Chromosome 3Q13.31 Deletion Syndrome
Attention deficit hyperactivity disorder, Alobar holoprosencephaly, Kyphosis OMIM:615433
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Tip-toe gait, Kyphosis, Kyphoscoliosis, Hyperlordosis ORPHA:536516
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Spinal rigidity, Waddling gait, Back pain, H... ORPHA:98855
Mucolipidosis Iii Gamma
Scoliosis, Short neck, Kyphosis, Short stature, Hyperlordosis OMIM:252605
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Scoliosis, Ataxia, Ovoid vertebral bodies, Cervical subluxation, Disproporti... OMIM:253010
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Cervical instability, Lumbar hyperlordosis, Short neck, Disproportionate short-trunk s... ORPHA:94068
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Spinal rigidity, Waddling gait, Back pain, V... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Spinal rigidity, Waddling gait, Back pain, V... ORPHA:98853
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Difficulty walking, Kyphosis, Waddling gait, Kyphoscoliosis OMIM:300280
Wieacker-Wolff Syndrome
Spasticity, Scoliosis, Oculomotor apraxia, Short neck, Apraxia, Kyphosis, Short stature, Hyperlor... OMIM:314580
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis, Short stature, Platyspondyly ORPHA:93274
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Ataxia, Olivopontocerebellar hypoplasia, Death in infancy, Kyphosis, Cerebell... OMIM:212065
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Thanatophoric Dysplasia
Hydrocephalus, Intrauterine growth retardation, Kyphosis, Abnormal sacroiliac joint morphology, P... ORPHA:2655
Osteogenesis Imperfecta, Type Ix
Scoliosis, Disproportionate short-limb short stature, Kyphosis, Platyspondyly OMIM:259440
Typical Nemaline Myopathy
Scoliosis, Gait disturbance, Short neck, Kyphosis, Spinal rigidity, Waddling gait, Hyperlordosis ORPHA:171436
Mucopolysaccharidosis Type 4
Scoliosis, Gait disturbance, Short neck, Kyphosis, Short stature, Platyspondyly, Spinal canal ste... ORPHA:582
Desbuquois Dysplasia 1
Scoliosis, Severe short stature, Short neck, Intrauterine growth retardation, Kyphosis, Platyspon... OMIM:251450
Pseudoachondroplasia
Scoliosis, Lumbar hyperlordosis, Kyphosis, Platyspondyly, Disproportionate short-limb short statu... OMIM:177170
Crisponi Syndrome
Hypertonia, Scoliosis, Death in infancy, Kyphosis ORPHA:1545
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
3C Syndrome
Scoliosis, Short neck, Hydrocephalus, Death in infancy, Short stature, Kyphosis, Hemivertebrae, A... ORPHA:7
Mcdonough Syndrome
Kyphosis, Scoliosis, Short stature ORPHA:2471
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Sacral dimple, Kyphosis, Spina bifida occulta, Cerebellar hypoplasia, Cerebellar vermi... OMIM:618291
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Mild short stature OMIM:130060
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Micro Syndrome
Spasticity, Delayed puberty, Scoliosis, Intrauterine growth retardation, Kyphosis, Short stature,... ORPHA:2510
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Kyphosis, Short neck OMIM:608776
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Gait disturbance, Hydrocephalus, Attention deficit hyperactivity disorder, Short statu... ORPHA:500055
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Scoliosis, Short neck, Intrauterine growth retardation, Ky... OMIM:248700
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short neck, Meningocele, Intrauterine growth retardation, Short stature, Kyphosis, Spi... ORPHA:2311
Zimmermann-Laband Syndrome 2
Kyphosis, Short stature, Short neck OMIM:616455
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis OMIM:615761
Bruck Syndrome 1
Scoliosis, Vertebral wedging, Short stature, Kyphosis, Platyspondyly OMIM:259450
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Hyperactivity, Short neck, Kyphosis, Short stature, Tremor, Broad-based gait ORPHA:85293
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Limb hypertonia, Cerebellar cortical atrophy, Kyphosis, ... ORPHA:521426
Mucopolysaccharidosis, Type Vii
Scoliosis, Short neck, Hydrocephalus, Anterior beaking of lower thoracic vertebrae, Short stature... OMIM:253220
Gm1-Gangliosidosis, Type I
Scoliosis, Severe short stature, Short neck, Hypoplastic vertebral bodies, Intrauterine growth re... OMIM:230500
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Short stature OMIM:180870
Brachyolmia Type 3
Scoliosis, Short neck, Childhood-onset short-trunk short stature, Kyphosis, Platyspondyly OMIM:113500
Achondroplasia
Lumbar hyperlordosis, Hydrocephalus, Rhizomelia, Kyphosis, Spinal canal stenosis, Disproportionat... ORPHA:15
Coffin-Lowry Syndrome
Death in early adulthood, Scoliosis, Gait disturbance, Progressive spasticity, Kyphosis, Short st... ORPHA:192
2P15P16.1 Microdeletion Syndrome
Scoliosis, Gait disturbance, Attention deficit hyperactivity disorder, Intrauterine growth retard... ORPHA:261349
Rhizomelic Syndrome, Urbach Type
Short neck, Rhizomelia, Kyphosis, Short stature, Abnormal form of the vertebral bodies ORPHA:3098
Dyggve-Melchior-Clausen Disease
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Disproportionate short-trunk shor... OMIM:223800
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck ORPHA:178148
Arthrogryposis, Distal, Type 5
Kyphosis, Hypertonia, Scoliosis, Short stature OMIM:108145
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Short stature, Fused cervical vertebrae, Hyperlordosis ORPHA:2522
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Severe short stature, Hydrocephalus, Rhizomelia, Kyphosis, Neonatal death, ... OMIM:616482
Cole-Carpenter Syndrome 2
Hydrocephalus, Kyphosis, Short stature, Platyspondyly, Postnatal growth retardation OMIM:616294
Diastrophic Dysplasia
Scoliosis, Intrauterine growth retardation, Kyphosis, Neonatal short-limb short stature, Hypoplas... ORPHA:628
Cole-Carpenter Syndrome
Scoliosis, Communicating hydrocephalus, Intrauterine growth retardation, Kyphosis, Short stature,... ORPHA:2050
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
15Q24 Microdeletion Syndrome
Scoliosis, Myelomeningocele, Kyphosis, Short stature, Postnatal growth retardation ORPHA:94065
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Scoliosis, Communicating hydrocephalus, Kyphosis, Gait ataxia, Cerebellar atrophy, Hyperlordosis OMIM:617011
19P13.12 Microdeletion Syndrome
Scoliosis, Hyperactivity, Short neck, Intrauterine growth retardation, Kyphosis, Aplasia/Hypoplas... ORPHA:254346
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphoscoliosis, Kyphosis OMIM:618484
Bruck Syndrome
Kyphosis, Scoliosis, Short stature, Platyspondyly ORPHA:2771
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Short stature, Ataxia ORPHA:2479
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short stature, Short neck ORPHA:3191
Emanuel Syndrome
Scoliosis, Torticollis, Hydrocephalus, Intrauterine growth retardation, Kyphosis, Sacral dimple, ... OMIM:609029
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis, Short stature ORPHA:1883
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Attention deficit hyperactivity disorder, Kyphosis, Pain insensitivity, Dysphagia, Tremor OMIM:617061
Rett Syndrome, Congenital Variant
Spasticity, Scoliosis, Apraxia, Kyphosis, Athetosis, Chorea, Dystonia OMIM:613454
Trisomy 13
Scoliosis, Intrauterine growth retardation, Kyphosis, Chiari malformation ORPHA:3378
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Severe short stature, Abnormal form of the vertebral bodies ORPHA:3344
Fountain Syndrome
Scoliosis, Spina bifida, Kyphosis, Short stature, Spina bifida occulta, Abnormal form of the vert... ORPHA:3219
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Inability to walk, Unsteady gait, Kyphosis, Short stature OMIM:618493
Triosephosphate Isomerase Deficiency
Spasticity, Death in adolescence, Unsteady gait, Death in infancy, Kyphosis, Tremor, Dystonia OMIM:615512
Pycnodysostosis
Spondylolysis, Scoliosis, Rhizomelia, Intrauterine growth retardation, Kyphosis, Spondylolisthesi... ORPHA:763
Lateral Meningocele Syndrome
Scoliosis, Vertebral fusion, Short neck, Hydrocephalus, Meningocele, Short stature, Kyphosis, Chi... OMIM:130720
Lateral Meningocele Syndrome
Scoliosis, Short neck, Meningocele, Kyphosis, Chiari malformation, Hyperlordosis, Abnormal form o... ORPHA:2789
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Short stature, Kyphosis, Hemivertebrae... ORPHA:2916
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Torticollis, Kyphosis OMIM:609128
Becker Nevus Syndrome
Scoliosis, Spina bifida occulta, Kyphosis ORPHA:64755
Trisomy 20P
Scoliosis, Gait disturbance, Short neck, Spina bifida, Kyphosis, Platyspondyly, Vertebral segment... ORPHA:261318
Alpha-Mannosidosis
Scoliosis, Kyphosis, Short neck ORPHA:61
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Severe short stature, Intrauterine growth retardation, Kyphosis, Vertebral segmentatio... ORPHA:1005
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Attention deficit hyperactivity disorder, Kyphosis, Tremor, Gait ataxia ORPHA:476126
Frank-Ter Haar Syndrome
Kyphosis, Scoliosis, Beaking of vertebral bodies ORPHA:137834
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Scoliosis, Gait disturbance, Irregular vertebral endplates, Hydrocephalus, Kyphosis, Short statur... ORPHA:3042
Genitopalatocardiac Syndrome
Scoliosis, Intrauterine growth retardation, Kyphosis, Hydrocephalus ORPHA:2075
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lumbar hyperlordosis, Cervical instability, Inability to walk, Hypoplasia of the odontoid process... ORPHA:508533
Ruvalcaba Syndrome
Delayed puberty, Scoliosis, Intrauterine growth retardation, Kyphosis, Abnormality of vertebral e... ORPHA:3121
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Short stature, Kyphosis, Platyspondyly, Neonatal short-trunk short stature, Kyphoscoli... ORPHA:93360
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Hydrocephalus, Kyphosis, Abnormal sacroiliac joint morphology,... ORPHA:1860
Urban-Rogers-Meyer Syndrome
Kyphosis, Short stature, Short neck ORPHA:3409
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Hydrocephalus OMIM:603387
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Disproportionate short-limb short stature, Neonatal short-limb short stature... OMIM:259420
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Scoliosis, Ataxia, Speech apraxia, Kyphosis, Tremor, Cerebellar hypoplasia, Kyph... OMIM:300967
Ullrich Congenital Muscular Dystrophy 1
Scoliosis, Torticollis, Kyphosis, Spinal rigidity OMIM:254090
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Scoliosis, Kyphosis OMIM:617143
Pelger-Huet Anomaly
Lower limb hypertonia, Kyphosis, Mild short stature OMIM:169400
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis OMIM:618272
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short stature, Short neck ORPHA:3082
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Weaver Syndrome
Polyphagia, Spasticity, Scoliosis, Kyphosis, Slurred speech, Cerebellar hypoplasia, Hypertonia, P... OMIM:277590
3M Syndrome
Scoliosis, Short neck, Increased vertebral height, Intrauterine growth retardation, Short stature... ORPHA:2616
Shashi-Pena Syndrome
Scoliosis, Limb hypertonia, Intrauterine growth retardation, Kyphosis, Cervical C2/C3 vertebral f... OMIM:617190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Difficulty walking, Communicating hydrocephalus, Kyphosis, Gait ataxia, Cer... ORPHA:457359
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal pyramidal sign, Kyphosis, Rigidity, Abnormality of extrapyramidal motor function, Dyspha... OMIM:617527
Cowden Syndrome 1
Intention tremor, Scoliosis, Kyphosis, Dysplastic gangliocytoma of the cerebellum OMIM:158350
Cockayne Syndrome
Spasticity, Delayed puberty, Scoliosis, Dense calcifications in the cerebellar dentate nucleus, S... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Attention deficit hyperactivity disorder, Tip-toe gait, Short stature, Kyphosis OMIM:618050
Craniosynostosis 6
Cerebellar atrophy, Scoliosis, Spina bifida occulta, Dandy-Walker malformation OMIM:616602
Distal Triplication 15Q
Scoliosis, Hydrocephalus, Intrauterine growth retardation, Kyphosis, Dandy-Walker malformation ORPHA:314588
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis, Short stature ORPHA:261190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Spastic tetraplegia, Scoliosis, Agitation, Progressive spastic quadriplegia, Cer... OMIM:619475
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Kyphosis ORPHA:261222
Cockayne Syndrome A
Gait disturbance, Ataxia, Severe postnatal growth retardation, Intrauterine growth retardation, K... OMIM:216400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Death in childhood, Impaired pain sensation, Scoliosis, Attention deficit hyperactivity disorder,... OMIM:619005
Stickler Syndrome, Type I
Scoliosis, Morbus Scheuermann, Kyphosis, Spondylolisthesis, Platyspondyly, Beaking of vertebral b... OMIM:108300
Mucopolysaccharidosis, Type Ii
Severe short stature, Short neck, Hydrocephalus, Short stature, Kyphosis, Mild short stature OMIM:309900
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis, Growth delay ORPHA:261144
Cockayne Syndrome B
Death in childhood, Severe short stature, Ataxia, Intrauterine growth retardation, Kyphosis, Norm... OMIM:133540
Cerebrocostomandibular Syndrome
Spina bifida, Hydranencephaly, Myelomeningocele, Meningocele, Death in infancy, Kyphosis, Intraut... ORPHA:1393
Trisomy 9P
Scoliosis, Sacral dimple, Kyphosis, Short neck ORPHA:236
Prader-Willi Syndrome
Polyphagia, Delayed puberty, Impaired pain sensation, Scoliosis, Poor gross motor coordination, A... OMIM:176270
Marden-Walker Syndrome
Scoliosis, Severe short stature, Hydrocephalus, Attention deficit hyperactivity disorder, Intraut... ORPHA:2461
Koolen-De Vries Syndrome
Scoliosis, Vertebral fusion, Overfriendliness, Short stature, Kyphosis, Vertebral segmentation de... ORPHA:96169
Osteogenesis Imperfecta
Tetraparesis, Paresthesia, Scoliosis, Gait disturbance, Somatic sensory dysfunction, Ataxia, Hydr... ORPHA:666
Schwartz-Jampel Syndrome
Scoliosis, Gait disturbance, Short neck, Blepharospasm, Attention deficit hyperactivity disorder,... ORPHA:800
Spondyloenchondrodysplasia
Spasticity, Disproportionate short-trunk short stature, Kyphosis, Short stature, Chorea, Platyspo... ORPHA:1855
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Irregular vertebral endplates, Sho... OMIM:271700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Attention deficit hyperactivity disorder, Kyphosis ORPHA:404440
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Sacral dimple, Kyphosis, Dysmetria OMIM:620185
Dysostosis, Stanescu Type
Scoliosis, Short neck, Kyphosis, Short stature, Hyperlordosis ORPHA:1798
Fucosidosis
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Kyphosis, Anterior beaking of lumbar ve... ORPHA:349
Hurler-Scheie Syndrome
Kyphosis, Scoliosis, Short stature, Growth delay OMIM:607015
Hurler Syndrome
Short neck, Hydrocephalus, Short stature, Kyphosis, C1-C2 subluxation, Hypoplasia of the odontoid... OMIM:607014
Koolen-De Vries Syndrome
Scoliosis, Vertebral fusion, Hyperactivity, Intrauterine growth retardation, Short stature, Sacra... OMIM:610443
Harrod Syndrome
Scoliosis, Intrauterine growth retardation, Kyphosis ORPHA:2115
Wolf-Hirschhorn Syndrome
Scoliosis, Ataxia, Abnormality of the vertebral column, Intrauterine growth retardation, Kyphosis... ORPHA:280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Scoliosis, Kyphosis, Hemivertebrae, Growth delay, Postnatal growth retardation, Kypho... OMIM:301040
Monosomy 9Q22.3
Hyperactivity, Hydrocephalus, Abnormality of the vertebral column, Short neck, Kyphosis, Chiari m... ORPHA:77301
Acro-Renal-Mandibular Syndrome
Scoliosis, Butterfly vertebrae, Short neck, Intrauterine growth retardation, Kyphosis, Hemivertebrae ORPHA:958
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis, Hydrocephalus OMIM:619951
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Scoliosis, Short stature, Kyphosis, Impaired temperature sensation, Impulsivity ORPHA:398069
Mend Syndrome
Hyperactivity, Hydrocephalus, Sacral dimple, Kyphosis, Short stature, Hypertonia, Dandy-Walker ma... OMIM:300960
Mend Syndrome
Hyperactivity, Hydrocephalus, Limb hypertonia, Sacral dimple, Kyphosis, Short stature, Dandy-Walk... ORPHA:401973
Cockayne Syndrome Type 3
Scoliosis, Dense calcifications in the cerebellar dentate nucleus, Unsteady gait, Difficulty walk... ORPHA:90324
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Abnormality of the vertebral column, Kyphosis, Spinal rigidity, Hemivertebrae, Abnorma... ORPHA:2062
Marshall-Smith Syndrome
Death in childhood, Scoliosis, Thoracic kyphosis, Hydrocephalus, Short stature, Kyphosis, Thoraci... OMIM:602535
Cowden Syndrome
Scoliosis, Ataxia, Kyphosis, Short stature, Abnormal cerebellum morphology ORPHA:201
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Gait disturbance, Short neck, Thoracolumbar scoliosis, Short stature, Kyphosis, Anteri... OMIM:265000
Osteogenesis Imperfecta, Type Iv
Kyphosis, Scoliosis, Short stature, Biconcave flattened vertebrae OMIM:166220
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Gait disturbance, Attention deficit hyperactivity disorder, Intrauterine growth retard... ORPHA:464311
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Kyphosis OMIM:300942
Cowden Syndrome 5
Intention tremor, Scoliosis, Kyphosis OMIM:615108
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Cono-Spondylar Dysplasia
Poor coordination, Scoliosis, Kyphosis, Short neck ORPHA:420794
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Disproportionate short-trunk short stature, Kyphosis, Short neck ORPHA:583
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Rhizomelia, Kyphosis, Platyspondyly, Thoracic pl... OMIM:618019
Cowden Syndrome 6
Intention tremor, Scoliosis, Kyphosis OMIM:615109
Neurofibromatosis Type 1
Delayed puberty, Paresthesia, Scoliosis, Ataxia, Hydrocephalus, Attention deficit hyperactivity d... ORPHA:636
Camurati-Engelmann Disease
Delayed puberty, Scoliosis, Ataxia, Abnormality of the vertebral column, Kyphosis, Waddling gait,... ORPHA:1328
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Inability to walk, Difficulty walking, Kyphosis ORPHA:464738
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Dysphagia, Scoliosis, Kyphosis, Difficulty walking OMIM:619482
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Irregular vertebral endplat... OMIM:143095
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Gait disturbance, Hyperactivity, Intrauterine growth retardation, Short stature, Kypho... ORPHA:464306
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Kyphosis OMIM:619123
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Unsteady gait, Kyphosis, Short stature, Myoclonus, Involuntary movements, Kyph... ORPHA:3063
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Agitation OMIM:219080
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Scoliosis, Kyphosis OMIM:616449
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Agitation OMIM:610475
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Kyphosis, Hydrocephalus OMIM:616914
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Overfriendliness, Hydrocephalus, Spina bifida, Attention deficit hyperactivity disorde... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Overfriendliness, Hydrocephalus, Spina bifida, Attention deficit hyperactivity disorde... ORPHA:363958
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis, Short stature, Growth delay OMIM:619557
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Short stature, Hyperlordosis ORPHA:568
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis, Intrauterine growth retardation, Short stature OMIM:617602
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Gait disturbance, Ataxia, Intrauterine growth retardation, Short stature, Sacral dimpl... ORPHA:268261
Campomelic Dysplasia
Scoliosis, Short neck, Kyphosis, Short stature, Poorly ossified cervical vertebrae ORPHA:140
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Short neck, Attention deficit hyperactivity disorder, Short stature, Kyphosis, Hemiver... OMIM:618223
16Q24.3 Microdeletion Syndrome
Dysphagia, Scoliosis, Kyphosis ORPHA:261250
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis, Severe short stature ORPHA:2215
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Smith-Lemli-Opitz Syndrome
Scoliosis, Short neck, Rhizomelia, Attention deficit hyperactivity disorder, Intrauterine growth ... ORPHA:818
Mgat2-Cdg
Scoliosis, Kyphosis, Cerebellar hypoplasia ORPHA:79329
Alstrom Syndrome
Kyphosis, Scoliosis, Short stature OMIM:203800
Hajdu-Cheney Syndrome
Delayed puberty, Scoliosis, Short neck, Hydrocephalus, Short stature, Kyphosis, Hypoplastic 5th l... ORPHA:955
Noonan Syndrome 14
Kyphosis, Short stature, Short neck OMIM:619745
Cohen Syndrome
Delayed puberty, Scoliosis, Intrauterine growth retardation, Kyphosis, Short stature ORPHA:193
Gaucher Disease Type 1
Delayed puberty, Kyphosis, Vertebral compression fracture, Growth delay ORPHA:77259
Osteogenesis Imperfecta, Type Viii
Scoliosis, Kyphosis, Vertebral compression fracture, Platyspondyly, Disproportionate short-limb s... OMIM:610915
Classical-Like Ehlers-Danlos Syndrome Type 2
Sacral dimple, Kyphosis, Thoracic scoliosis, Kyphoscoliosis, Impaired temperature sensation ORPHA:536532
Mucolipidosis Type Ii
Kyphosis, Postnatal growth retardation, Inability to walk, Short stature ORPHA:576
Osteoporosis-Pseudoglioma Syndrome
Scoliosis, Severe platyspondyly, Short stature, Vertebral compression fracture, Kyphosis, Platysp... OMIM:259770
Mosaic Trisomy 20
Scoliosis, Vertebral fusion, Intrauterine growth retardation, Kyphosis, Spinal canal stenosis, Fu... ORPHA:1724
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Agitation OMIM:610489
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Scoliosis, Spina bifida occulta, Dandy-Walker malformation OMIM:618736
Zttk Syndrome
Spasticity, Scoliosis, Intrauterine growth retardation, Short stature, Kyphosis, Hemivertebrae, C... OMIM:617140
2Q31.1 Microdeletion Syndrome
Scoliosis, Short neck, Kyphosis, Short stature, Vertebral segmentation defect ORPHA:251014
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Kyphosis, Vertebral compression fracture OMIM:219090
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Williams Syndrome
Death in early adulthood, Spasticity, Scoliosis, Gait disturbance, Overfriendliness, Ataxia, Atte... ORPHA:904
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Short stature OMIM:239000
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Short neck, Sacral dimple, Kyphosis, Short stature OMIM:616894
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Short stature ORPHA:1969
Autosomal Recessive Robinow Syndrome
Scoliosis, Short neck, Sacral dimple, Kyphosis, Death in infancy, Disproportionate short-limb sho... ORPHA:1507
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disc degeneration OMIM:203500
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Coffin-Siris Syndrome 1
Scoliosis, Intrauterine growth retardation, Short stature, Sacral dimple, Kyphosis, Gait ataxia, ... OMIM:135900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Scoliosis, Kyphosis OMIM:619718
1P36 Deletion Syndrome
Polyphagia, Scoliosis, Gait disturbance, Hemiplegia/hemiparesis, Short stature, Kyphosis, Dysphag... ORPHA:1606
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Short neck, Kyphosis, Disproportionate short-limb short stature, Hypertonia OMIM:619194
Frank-Ter Haar Syndrome
Prominent coccyx, Kyphosis, Growth delay, Kyphoscoliosis, Anterior concavity of thoracic vertebrae OMIM:249420
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Disproportionate short-trunk short stature, Kyphosis, Platyspondyly, Waddli... OMIM:300106
Wolf-Hirschhorn Syndrome
Scoliosis, Vertebral fusion, Severe postnatal growth retardation, Hydrocephalus, Intrauterine gro... OMIM:194190
Shprintzen Omphalocele Syndrome
Kyphosis, Scoliosis, Lumbar hyperlordosis, Short stature OMIM:182210
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Scoliosis, Severe short stature, Hydrocephalus ORPHA:2658
Cleidocranial Dysplasia 1
Spondylolysis, Scoliosis, Short stature, Kyphosis, Spondylolisthesis, Moderately short stature OMIM:119600
Aspartylglucosaminuria
Spondylolysis, Spasticity, Scoliosis, Short stature, Kyphosis, Spondylolisthesis, Platyspondyly, ... OMIM:208400
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Scoliosis, Clonus, Attention deficit hyperactivity disorder, Death in infancy, S... ORPHA:534
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Familial Osteodysplasia, Anderson Type
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2769
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Lumbar hyperlordosis, Kyphosis, Growth delay ORPHA:2232
Classic Homocystinuria
Scoliosis, Hemiplegia/hemiparesis, Kyphosis ORPHA:394
Poland Syndrome
Encephalocele, Scoliosis, Short neck, Kyphosis, Hemivertebrae, Spina bifida occulta, Vertebral se... ORPHA:2911
Cdags Syndrome
Kyphosis OMIM:603116
Marfan Syndrome
Scoliosis, Meningocele, Attention deficit hyperactivity disorder, Kyphosis, Spondylolisthesis ORPHA:558
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Abnormality of the vertebral column, Kyphosis, Platyspondyly, Cerebellar hy... ORPHA:2273
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Stickler Syndrome
Scoliosis, Hemiplegia/hemiparesis, Kyphosis, Short stature, Platyspondyly, Spinal canal stenosis,... ORPHA:828
Ramon Syndrome
Kyphosis, Scoliosis, Short stature OMIM:266270
Primrose Syndrome
Delayed puberty, Restlessness, Irregular vertebral endplates, Ataxia, Attention deficit hyperacti... OMIM:259050
Turner Syndrome Due To Structural X Chromosome Anomalies