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

Histopathology

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

There is no histopathology data for Zic1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zic1.

No publications found that use IMPC mice or data for Zic1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Zic1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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