Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ataxin 1
Synonyms:
Atx1,  Sca1,  2900016G23Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Atxn1 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 Atxn1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atxn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Sensory ataxia, Paresthesia, Distal sensory impairment OMIM:616491
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Motor deterio... ORPHA:98765
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Cognitive impairment, Mental deterior... ORPHA:306617
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Gait disturbance, Ataxia, Abnormal cerebellum morphology, Babinski sign, Ment... OMIM:618418
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar at... ORPHA:85292
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Dystonia, Axial dystonia, Hypertonia, Toe walking, Head titubation, Spastic diplegia, ... ORPHA:300605
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Diffuse cerebellar atrophy, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Progressive neurologic deterioration, Ventriculomegaly, Hypertonia, Ataxia, Cerebellar atrophy, M... OMIM:613925
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Cerebellar hypoplasia, Ataxia, Dysmetria, Cognitive impairment OMIM:617584
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Dementia, Abnormality of extrapyramidal... ORPHA:79262
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Chorea, Ventriculomegaly, Ataxia, Bradykinesia, Weight loss, Pro... ORPHA:248111
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Gait ataxia, Weight loss, Cachexia, Failure to thrive OMIM:612075
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus, Mental deterioration OMIM:616187
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Dementia, Gait disturbance, Poor fine motor coordination, Abnorm... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Dementia, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnor... OMIM:615362
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb musc... OMIM:611225
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Spastic paraplegia, Limb dysmetria, Dementia, Head tremor, Upper limb spasticity, Kyph... OMIM:614409
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Gait disturbance, Weight loss, Parkinsonism, Involuntary movements, M... ORPHA:98934
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Arthrogryposis multi... ORPHA:85278
Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant
Dementia, Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, P... OMIM:162350
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Dementia, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Cho... OMIM:125370
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Gait disturbance, Flexion contracture, Spinal rigidity, Cachexia, Skeletal muscle ... ORPHA:157973
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Distal sensory impairment, Foot dorsiflexor weakness OMIM:617087
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ventriculomegaly, Ataxia, Cerebellar atrophy, Stereotypy, Short stature OMIM:617862
Olivopontocerebellar Atrophy-Deafness Syndrome
Ventriculomegaly, Hypertonia, Olivopontocerebellar atrophy, Ataxia ORPHA:2732
Progressive Myoclonic Epilepsy Type 1
Dementia, Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Cerebellar cyst, Ventricul... ORPHA:370980
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Arthrogryposis multiplex congenita, Ventriculomegaly, Flexion contracture, Intrauterine... OMIM:618397
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Cerebellar hypoplasia, Facial hypotonia, Ataxia OMIM:618383
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Ataxia, Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity OMIM:613402
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cognitive impairment OMIM:616267
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Cognit... ORPHA:401901
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Cerebellar... OMIM:616948
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Rett Syndrome
Scoliosis, Dystonia, Gait ataxia, Truncal ataxia, Dementia, Kyphosis, Motor deterioration, Gait a... OMIM:312750
Flynn-Aird Syndrome
Scoliosis, Dementia, Kyphosis, Ataxia, Cachexia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:2047
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Ventriculomegaly, Failure to thrive in infancy, Spasticity OMIM:617800
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Distal lower limb amyotrophy, Impaired pai... ORPHA:101075
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Ventriculomegaly, Abnormal neuron morphology ORPHA:329228
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Dement... OMIM:617225
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Gait ataxia, Ventriculomegaly, Slurred speech, Flexion contracture of to... OMIM:619323
Roussy-Lévy Syndrome
Scoliosis, Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Intrinsic hand... ORPHA:3115
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Macroglossia, Shoulder girdle muscle atro... OMIM:606612
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Diffuse cerebellar atrophy, Spastic dysarthria, Progressive gait ataxia, Diff... ORPHA:363429
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Limb-girdle muscle weakness, Fatigable weakness of skeletal muscles, Skeletal muscle h... ORPHA:370968
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Dementia, Chorea, Gait disturbance, Ventriculomegaly, Po... ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Ventriculomegaly, Kyphosis, Failure to thrive, Limb dystonia, Impai... ORPHA:319199
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Ventriculomegaly, Gait disturbance, Ataxia, Progressive psychomotor deterioration,... OMIM:230600
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Ataxia, Stereotypy, Hydrocephalus, Attention def... OMIM:618709
Mitochondrial Complex I Deficiency, Nuclear Type 31
Progressive neurologic deterioration, Ventriculomegaly, Myoclonus, Failure to thrive, Dysmetria, ... OMIM:618251
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly, Gait disturbance OMIM:611808
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Scoliosis, Dystonia, Kyphosis, Ataxia, Obesity, Lumbar hyperlordosis, Lower li... OMIM:616756
Sandhoff Disease
Kyphosis, Ataxia, Progressive psychomotor deterioration, Motor deterioration, Failure to thrive ORPHA:796
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Fatigable weakness of skeletal muscles, Proximal amyotrophy,... ORPHA:206559
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Gait ataxia, Ventriculomegaly, Generalized amyotrophy, Myoclonus OMIM:616540
Pelizaeus-Merzbacher Disease
Scoliosis, Dystonia, Gait disturbance, Kyphosis, Ataxia, Failure to thrive in infancy, Cachexia, ... ORPHA:702
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Porencephaly
Hemiplegia/hemiparesis, Ventriculomegaly, Cerebral palsy, Spasticity ORPHA:2940
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Motor deterioration, Cerebellar atrophy, Myoclonus, Dysme... OMIM:256731
Riboflavin Transporter Deficiency
Tremor, Ataxia, Facial palsy, Myoclonus, Cachexia, Skeletal muscle atrophy, Limb muscle weakness ORPHA:97229
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment, Kyphoscoliosis, Cognitive impairment, Foot dorsiflexor weaknes... OMIM:616668
Caribbean Parkinsonism
EMG: myopathic abnormalities, Dystonia, Apraxia, Dementia, Progressive gait ataxia, Ventriculomeg... ORPHA:97355
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Skeletal muscle atrophy, Impaired pain sen... ORPHA:101078
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Mental deterioration, Attention deficit hyperac... OMIM:619191
Masa Syndrome
Hyperlordosis, Spastic paraplegia, Ventriculomegaly, Kyphosis, Lower limb spasticity, Short statu... OMIM:303350
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Hypoplasia of the pons OMIM:618677
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Inability to walk, Ventriculomegaly, Spastic tetraparesis, Cerebellar hypoplasia, Spastic gait OMIM:616486
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Ventriculomegaly, Oculomotor apraxia, Cerebellar hypoplasia, Ataxia, Unsteady ... OMIM:618273
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Weight loss, Action tremor, Bradykinesia, Rigidity OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Cognitive impai... OMIM:615386
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Paresthesia, Acute rhabdomyolysis, Ventriculomegaly, Kyphosis... ORPHA:48431
Masa Syndrome
Spastic paraplegia, Camptodactyly of finger, Ventriculomegaly, Gait disturbance, Hemiplegia/hemip... ORPHA:2466
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Muscular dystrophy, Progressive distal muscular atrophy, Oculomotor apraxia, Ataxia, So... ORPHA:459033
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Rigidity, Dementia, Chorea, Limb ataxia, A... OMIM:607136
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Dementia, Limb ataxia, Lower limb muscle weakness, ... OMIM:137440
Spinocerebellar Ataxia Type 17
Dystonia, Rigidity, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramid... ORPHA:98759
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Ataxia, Cachexia, Short stature, Skeletal muscle atrophy ORPHA:1933
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign... OMIM:617672
Kohlschutter-Tonz Syndrome
Dementia, Ventriculomegaly, Cerebellar hypoplasia, Ataxia, Spasticity OMIM:226750
Ataxia-Deafness-Intellectual Disability Syndrome
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Ataxia, Skeletal muscle atrophy ORPHA:1188
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck, Cognitive impairment ORPHA:2744
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Dystonia, Impaired vibratory sensation, Gait disturbance, Kyphosis, Lower lim... OMIM:614898
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Camptodactyly... OMIM:275900
Neuronal Intranuclear Inclusion Disease
Tremor, Dementia, Ventriculomegaly, Gait disturbance, Ataxia, Somatic sensory dysfunction, Cognit... OMIM:603472
Mcdonough Syndrome
Scoliosis, Kyphosis, Cachexia, Short stature, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2471
Xfe Progeroid Syndrome
Scoliosis, Ventriculomegaly, Poor coordination, Severe short stature, Cachexia OMIM:610965
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Spastic tetraplegia, Cerebral palsy OMIM:612900
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Rigidity, Dense calcifications in the cereb... OMIM:213600
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Progressive neurologic deterioration, Gait disturbance, Kyphosis, Ataxia, Cerebellar a... ORPHA:85317
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Inability to walk, Spastic paraplegia, Ventriculomegaly, Flexion contracture, Kyphoscoliosis OMIM:617977
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Oculopharyngodistal Myopathy
Vocal cord paresis, Abnormality of facial musculature, Fatigable weakness of bulbar muscles, Abno... ORPHA:98897
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Cerebellar atrophy, Cachexia, ... OMIM:618186
Mulibrey Nanism
Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Waddling gait, Small for gestational age, Short stature OMIM:618392
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Scoliosis, Facial hypotonia, Hypertonia, Failure to thrive in infancy, Cachexi... OMIM:616801
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Ventriculomegaly, Cerebellar atrophy, Babinski sign, Dysmetria, Cognitive im... OMIM:616680
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Fatigable weakness, Distal arthrogryposis, Cachexia, Skeletal muscle atrophy, F... ORPHA:42
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Paraparesis, Gait disturbance, Kyphosis, Skeletal muscle hypertrophy, Ataxia, ... ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Dystonia, Kyphosis, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle c... OMIM:617435
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Partial absence of cerebellar vermis, Ventriculomegaly, Cerebellar hypoplasia, Ataxia, Retrocereb... ORPHA:137831
Bowen-Conradi Syndrome
Camptodactyly of finger, Ventriculomegaly, Severe intrauterine growth retardation, Short stature,... ORPHA:1270
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Ataxia, Cerebellar atrophy, Involuntary mo... OMIM:617804
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Dementia, Ventriculomegaly, Ataxia, Broad-based gait OMIM:206570
Pettigrew Syndrome
Scoliosis, Gait ataxia, Ventriculomegaly, Flexion contracture, Choreoathetosis, Hydrocephalus, Da... OMIM:304340
Spinocerebellar Ataxia, X-Linked 4
Dementia, Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Involuntary movements, Dementia, Dyssynergia, Li... ORPHA:101
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Flexion contracture, Centrally nucleated skeletal ... OMIM:248800
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Memory impairment, Mental det... ORPHA:399
Lissencephaly 3
Ventriculomegaly, Cerebellar vermis hypoplasia, Spastic tetraplegia, Ataxia OMIM:611603
Jaberi-Elahi Syndrome
Inability to walk, Scoliosis, Tremor, Gait ataxia, Dystonia, Kyphosis, Cerebellar atrophy, Dysmet... OMIM:617988
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Dementia, Mental deterioration, Limb at... OMIM:208920
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Short stature, Hyperactivity ORPHA:85288
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mehmo Syndrome
Inability to walk, Gait ataxia, Difficulty walking, Ventriculomegaly, Spastic tetraparesis, Spast... OMIM:300148
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Scoliosis, Kyphosis, Spasticity, Cerebellar hypoplasia, Ataxia, Unsteady gait,... OMIM:618443
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Lissencephaly 1
Ventriculomegaly, Spastic tetraparesis, Cerebellar hypoplasia OMIM:607432
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Abnormal anterior horn cell morphology, Dystonia, Scoliosis, Arthrogryposis mu... OMIM:611890
Gabriele-De Vries Syndrome
Tremor, Dystonia, Ventriculomegaly, Waddling gait, Intrauterine growth retardation OMIM:617557
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Decreased muscle mass, Paresthesia, Dementia, Weight loss... ORPHA:298
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Ataxia, Postnatal grow... ORPHA:391417
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Hypertonia, Spastic tetraplegia, Cerebellar atrophy OMIM:618730
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Ventriculomegaly, Failure to thrive, Tetraplegia, Choreoathetosis, Spasticity OMIM:616034
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Ventriculomegaly, Poor coordination, Paroxysmal dyskinesia, Ataxia, Falls, Ster... OMIM:619150
Moynahan Syndrome
Cachexia, Short stature ORPHA:2574
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Arthrogryposis multiplex congenita, Ventriculomegaly, Kyphosis, Cerebellar hypoplasia,... OMIM:618291
Microcephaly 5, Primary, Autosomal Recessive
Ventriculomegaly, Cerebellar hypoplasia, Short stature, Attention deficit hyperactivity disorder OMIM:608716
Isolated Succinate-Coq Reductase Deficiency
Spastic paraparesis, Dementia, Proportionate short stature, Loss of ability to walk, Lower limb h... ORPHA:3208
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Tremor, Gait ataxia, Scoliosis, Apraxia, Gait d... ORPHA:3095
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Short stature ORPHA:3207
Polymicrogyria, Bilateral Frontoparietal
Truncal ataxia, Hypoplasia of the pons, Ventriculomegaly, Hypertonia, Cerebellar hypoplasia, Ankl... OMIM:606854
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Scoliosis, Dystonia, Hypoplasia of the pons, Ventriculomegaly, Myoclonus, Spasticity OMIM:617669
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Dementia, Gait disturbance, Blepharospasm, Laryngeal dystonia, Torticollis, U... ORPHA:98805
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Developmental And Epileptic Encephalopathy 59
Inability to walk, Scoliosis, Ventriculomegaly OMIM:617904
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Frequent falls, Short n... OMIM:300718
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Short stature, Hyperactivity, Athetosis ORPHA:52503
Autosomal Recessive Ataxia, Beauce Type
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Kyphosis, Lower limb muscl... ORPHA:88644
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Abnormality of extrapyramidal ... ORPHA:500180
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... OMIM:607454
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Cerebellar hypoplasia, Short stature, Failure to thrive, Spasticity OMIM:617090
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Spasticity, Enlarged sylvian cistern ORPHA:1084
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy OMIM:618323
Spastic Paraplegia 47, Autosomal Recessive
Inability to walk, Spastic paraplegia, Dystonia, Ventriculomegaly, Flexion contracture, Waddling ... OMIM:614066
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Difficult... ORPHA:98772
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Scoliosis, EMG: myopathic abnormalities, Intrauterine growth retardation, Spastic tetraplegia, Ca... ORPHA:371364
Infantile Krabbe Disease
Progressive neurologic deterioration, Psychomotor deterioration, Spastic diplegia, Ankle clonus, ... ORPHA:206436
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Platyspondyly, Mental deterioration, Ventriculomegaly, Kyphosis, Cerebellar hypoplasia, Ataxia, S... OMIM:618476
Spinocerebellar Ataxia 32
Cognitive impairment, Cerebellar atrophy, Ataxia OMIM:613909
Dopa-Responsive Dystonia
Inability to walk, Tremor, Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Shoulder flexion contracture, Decreased muscle mass, Congenital finger ... ORPHA:536516
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Dystonia, Difficulty walking, Kyphosis, Absent pubertal growth spurt, Spasticity, Atax... ORPHA:464282
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Joubert Syndrome 31
Cognitive impairment, Ventriculomegaly, Truncal ataxia, Oculomotor apraxia OMIM:617761
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
X-Linked Intellectual Disability, Cabezas Type
Scoliosis, Camptodactyly of finger, Tremor, Kyphosis, Cachexia, Short stature, Hyperactivity, Sho... ORPHA:85293
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Severe short stature, Ventriculomegaly, Ataxia, Spasticity OMIM:225755
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98855
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98863
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Tremor, Rigidity, Dementia, Chorea, Subcortical dementia, Blepharospasm, Ataxia, Bradyk... OMIM:606159
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Ventriculomegaly, Short stature, Failure to thrive ORPHA:1388
Narp Syndrome
Dementia, Progressive gait ataxia, Ventriculomegaly, Ataxia, Babinski sign, Short stature, Myoclo... ORPHA:644
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Memory impairment, Chorea, Gait disturbance, Slurr... ORPHA:98755
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Mental deterioration, Dementia, Speech apraxia, Abnorma... ORPHA:99750
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Kyphosis, Slurred speech, Anterior beaking of lumbar vertebra... OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Macroglossia, Ventriculomegaly, Kyphosis, Distal lower limb amyotrophy, Dela... OMIM:300354
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Growth delay, Ataxia, Progressive psychomotor deterioration, Failure to thrive,... ORPHA:251009
Intellectual Developmental Disorder, X-Linked 12
Tremor, Ventriculomegaly, Gait disturbance, Hyperkinetic movements, Cerebellar vermis hypoplasia,... OMIM:300957
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Dystonia, Ventriculomegaly, Small for gestational age, Choreoathetosis OMIM:312170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Bilateral Frontoparietal Polymicrogyria
Ventriculomegaly, Abnormal pyramidal sign, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ab... ORPHA:101070
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Hypertonia, Joint contracture of the 5th... ORPHA:352490
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Ventriculomegaly OMIM:615763
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98853
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Limb-girdle muscle weakness, Fatigable weakness of respiratory muscles,... ORPHA:171436
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Disproportionate short-trunk short stature, Intervertebral space ... OMIM:271530
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Ventriculomegaly OMIM:617051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Cerebellar cyst, Congenital muscular dystrophy, Ventriculomegaly, Muscular dystrophy, Cerebellar ... OMIM:613151
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Progressive neurologic deterioration, Dystonia, Truncal ataxia, Abnormal vertebral morphology, Ve... ORPHA:88639
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia, Unsteady gait, Cerebellar atrophy OMIM:300861
Congenital Disorder Of Glycosylation, Type Iih
Scoliosis, Ventriculomegaly, Ataxia, Failure to thrive in infancy, Cerebellar atrophy OMIM:611182
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Generalized dystonia... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia, Short stature ORPHA:1389
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Gait disturbance, Cachexia ORPHA:2774
Isaac Syndrome
Fasciculations, Weight loss, Calf muscle hypertrophy, Distal sensory impairment ORPHA:84142
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Failure to thrive, Myopathy OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 19
Inability to walk, Scoliosis, Gait disturbance, Ventriculomegaly, Cerebellar atrophy, Myoclonus, ... OMIM:618241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Flexion contracture, Muscular dystrophy, Hydrocephalus, Dandy-Walker malformati... OMIM:613154
Developmental And Epileptic Encephalopathy 1
Dystonia, Erratic myoclonus, Ventriculomegaly, Hypertonia, Abnormal pyramidal sign, Spastic tetra... OMIM:308350
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Lethargy, Abnormal pyramidal sign, Failure to thrive OMIM:618228
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Gait disturbance, Kyphosis ORPHA:1875
Bethlem Myopathy 2
Myopathy, Kyphosis, Scapular winging, Flexion contracture OMIM:616471
Renpenning Syndrome
Severe short stature, Growth delay, Cachexia, Skeletal muscle atrophy ORPHA:3242
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Cdkl5-Deficiency Disorder
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Growth delay, Impaired pain sensation,... ORPHA:505652
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:1568
Mental Retardation, Autosomal Dominant 26
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Hypertonia, Small for gestational age, S... OMIM:615834
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia ORPHA:171703
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Ventriculomegaly, Cerebellar hypoplasia, Opisthotonus, Limb hypertonia, Cerebel... OMIM:612389
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Kyphosis, Truncal obesity, Spasticity ORPHA:2429
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Scoliosis, Macroglossia, Difficulty walking, Congenital muscular dystrophy, Kyphos... OMIM:607155
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Weight loss, Distal amyotrophy, Cachexia, Distal sensory impairment, Ragged-red mu... OMIM:603041
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ventriculomegaly, Tetraparesis, Spastic diplegia, Abnormal cerebellum morphology, Failure to thrive ORPHA:255182
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Short stature, Hyperactivity OMIM:300434
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Kyphosis, Increased en... ORPHA:75840
Xylosidase Deficiency
Ventriculomegaly, Choreoathetosis OMIM:278900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Muscular dystrophy, Cerebellar hypoplasia, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Macroglossia, Congenital muscular dystrophy, Ventriculomegaly, Muscular... OMIM:613156
Microcephaly-Cardiomyopathy Syndrome
Cognitive impairment, Ventriculomegaly, Short stature, Intrauterine growth retardation ORPHA:2515
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Scapular winging, Scapular muscle atrophy, Peroneal muscle atrophy, Amy... OMIM:181405
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Hypoplasia of the pons, Impaired vibratory sensation, Limb ataxia, Ataxia,... ORPHA:98760
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Difficulty walking, Kyphosis, Spastic tetraparesis, Lower... ORPHA:171629
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Short stature, Spasticity ORPHA:1261
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Short neck, Cachexia ORPHA:1438
Skraban-Deardorff Syndrome
Ventriculomegaly, Spastic gait, Broad-based gait OMIM:617616
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Kyphosis, Flexion contracture, Spastic tetraplegia, Failure to thrive, Intrauterine gro... OMIM:618237
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Ventriculomegaly, Abnormal pyramidal sign, Growth d... ORPHA:765
Perry Syndrome
Tremor, Dementia, Abnormality of extrapyramidal motor function, Weight loss, Parkinsonism ORPHA:178509
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in upper limbs, P... OMIM:618138
Tay-Sachs Disease
Dystonia, Clumsiness, Poor fine motor coordination, Lower limb muscle weakness, Skeletal muscle a... ORPHA:845
Tetrasomy 12P
Short neck, Cachexia, Short stature ORPHA:884
Mitochondrial Complex I Deficiency, Nuclear Type 33
Progressive neurologic deterioration, Ventriculomegaly, Cerebellar hypoplasia, Intrauterine growt... OMIM:618253
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Dementia, Hypomimic face, Abnormal vestibulo-ocular re... ORPHA:247234
Band Heterotopia
Ventriculomegaly, Hydrocephalus, Spasticity OMIM:600348
Developmental And Epileptic Encephalopathy 70
Scoliosis, Ventriculomegaly, Spastic tetraparesis, Flexion contracture OMIM:618298
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Ventriculomegaly, Cerebellar atrophy, Spastic tetraplegia, Babinski sign, Cer... OMIM:612936
Tuberculosis
Weight loss ORPHA:3389
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Cockayne Syndrome
Scoliosis, Hypertonia, Postnatal growth retardation, Delayed puberty, Skeletal muscle atrophy, Sp... ORPHA:191
Whipple Disease
Abnormal pyramidal sign, Ataxia, Myoclonus, Cachexia, Myositis, Hydrocephalus ORPHA:3452
Trisomy 5P
Scoliosis, Ventriculomegaly, Short stature, Obesity ORPHA:1742
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Ventriculomegaly, Kyphosis, Cerebellar hypoplasia, Growth delay, Stereotypy, I... ORPHA:238750
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Myoclonus, Hydrocephalus, Dandy-Walker malformation, Spasticity OMIM:617281
Spinocerebellar Ataxia 1
Abnormality of extrapyramidal motor function, Skeletal muscle atrophy, Impaired proprioception, S... OMIM:164400
Multiple Mitochondrial Dysfunctions Syndrome 5
Ventriculomegaly, Growth delay, Spasticity OMIM:617613
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Centrally nucleated... OMIM:618484
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Aredyld Syndrome
Scoliosis, Cachexia, Short stature, Intrauterine growth retardation ORPHA:1133
Snijders Blok-Campeau Syndrome
Scoliosis, Speech apraxia, Ventriculomegaly, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Chorea, Ventriculomegaly, Cerebellar hypoplasia, Hemiparesis, Limb h... OMIM:618004
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar cyst, Viral infection-induced rhabdomyolysis, Ventriculomegaly, C... ORPHA:2524
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Cerebellar cyst, Congenital muscular dystrophy, Ventriculomegaly, Abnormal pyramida... ORPHA:370959
Sialidosis Type 2
Tremor, Kyphosis, Flexion contracture, Ataxia, Skeletal muscle atrophy, Short stature ORPHA:87876
Silver-Russell Syndrome
Scoliosis, Decreased muscle mass, Failure to thrive in infancy, Postnatal growth retardation, Cac... ORPHA:813
Nasu-Hakola Disease
Chorea, Ventriculomegaly, Oculomotor apraxia, Memory impairment, Frontal lobe dementia, Hydroceph... ORPHA:2770
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Ventriculomegaly, Muscular dystrophy, Cerebellar hypoplasia, Cerebellar dysplasi... OMIM:613153
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dystonia, Ventriculomegaly, Hypertonia, Ataxia, Limb hypertonia, Cerebellar atrophy, Spastic tetr... OMIM:617710
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Ventriculomegaly, Hypertonia, Myoclonus OMIM:617290
Superficial Siderosis
Lower limb muscle weakness, Memory impairment, Dysdiadochokinesis, Paresthesia, Slurred speech, A... ORPHA:247245
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Scoliosis, Ventriculomegaly, Ataxia, Unilateral facial palsy, Torticollis, Limb hypertonia, Cereb... OMIM:618547
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Ataxia, Cerebellar atrophy, Memory impairment, Cataplexy, Spasticity OMIM:604121
Pierpont Syndrome
Scoliosis, Ventriculomegaly, Small for gestational age, Arnold-Chiari malformation, Short neck ORPHA:487825
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Ventriculomegaly, Gait disturbance, Muscular dystrophy, Flexion contract... ORPHA:272
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Scheuermann-like vertebral changes, Kyphosis, Delayed ... OMIM:301900
Peho-Like Syndrome
Ventriculomegaly, Myoclonus, Cerebellar atrophy OMIM:617507
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Ventriculomegaly, Spasticity, Decreased body weight, Hyperactivity, Broad-based gait OMIM:300958
Schwartz-Jampel Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Hypertonia, Wrist flexion contracture, Skeletal mu... ORPHA:800
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Spastic paraparesis, Ventriculomegaly, Gait disturbance, Lower limb muscle weakness, He... ORPHA:395
Gm1 Gangliosidosis
Scoliosis, Dystonia, Abnormality of extrapyramidal motor function, Weight loss, Generalized dysto... ORPHA:354
Aicardi-Goutieres Syndrome 4
Dystonia, Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation, Hydrocephalus, S... OMIM:610333
Pontocerebellar Hypoplasia, Type 2E
Scoliosis, Ventriculomegaly, Hypertonia, Flexion contracture, Opisthotonus, Cerebellar atrophy, S... OMIM:615851
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Dystonia, Cerebellar cyst, Ventriculomegaly, Flexion contracture, Ataxia, Smal... ORPHA:79243
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Short stature, Obesity ORPHA:276630
Cog8-Cdg
Ventriculomegaly, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Skeletal muscle atrophy ORPHA:95428
Ck Syndrome
Slender build, Scoliosis, Hyperlordosis, Kyphosis, Hyperactivity OMIM:300831
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Developmental And Epileptic Encephalopathy 54
Ventriculomegaly OMIM:617391
Fetal Akinesia Deformation Sequence 4
Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Camptodactyly, Skeletal muscle... OMIM:618393
Baralle-Macken Syndrome
Inability to walk, Dystonia, Kyphosis, Obesity, Spasticity OMIM:619255
Perry Syndrome
Tremor, Dystonia, Akinesia, Frontotemporal dementia, Bradykinesia, Weight loss, Parkinsonism, Sho... OMIM:168605
Clcn4-Related X-Linked Intellectual Disability Syndrome
Scoliosis, Upper limb spasticity, Chorea, Ventriculomegaly, Progressive cerebellar ataxia, Unstea... ORPHA:485350
Hemimegalencephaly
Myoclonus, Ventriculomegaly, Abnormal neuron morphology, Hemiparesis ORPHA:99802
Shashi-Pena Syndrome
Scoliosis, Ventriculomegaly, Kyphosis OMIM:617190
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Inability to walk, Scoliosis, Ventriculomegaly, Hypertonia, Decreased body weight, Ataxia, Sacral... ORPHA:505237
Sialidosis Type 1
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, Kyphosis, Slurred spe... ORPHA:812
Microhydranencephaly
Ventriculomegaly, Cerebellar hypoplasia, Multiple joint contractures, Spastic tetraplegia, Skelet... OMIM:605013
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Short stature, Hydrocephalus, Spasticity ORPHA:220295
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Cachexia, Weight loss ORPHA:1979
Mental Retardation, Autosomal Dominant 57
Scoliosis, Kyphosis, Toe walking, Short stature, Attention deficit hyperactivity disorder OMIM:618050
Ullrich Congenital Muscular Dystrophy 1
Slender build, Scoliosis, Reduced muscle collagen VI, Congenital muscular dystrophy, Kyphosis, Fl... OMIM:254090
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Ventriculomegaly, Cerebellar malformation, Hydrocephalus ORPHA:324416
Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 2
Ventriculomegaly, Lethargy, Small for gestational age OMIM:610498
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Scoliosis, Ventriculomegaly, Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Ventriculomegaly, Flexion contracture, Cerebellar hypoplasia, Intrauterine growth retar... OMIM:225790
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Dystonia, Abnormal vertebral morphology, Speech apraxia, Ventriculomegaly, Paroxysmal ... ORPHA:261197
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly OMIM:612691
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Gait disturbance, K... ORPHA:88628
Cornelia De Lange Syndrome 2
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Short stature, C... OMIM:300590
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Ventriculomegaly, Progressive spastic quadriplegia, Cerebellar atrophy, Failure to thri... ORPHA:431361
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Cognitive impair... ORPHA:858
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Ventriculomegaly ORPHA:1980
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Congenital muscular dystrophy, Ventriculomegaly, Cerebellar atrophy... OMIM:601170
Multiple Sulfatase Deficiency
Ventriculomegaly, Ataxia, Rapid neurologic deterioration, Cerebellar atrophy, Short stature, Hypo... OMIM:272200
Epilepsy, Progressive Myoclonic, 10
Dementia, Spastic ataxia, Ataxia, Progressive cerebellar ataxia, Spastic tetraplegia, Myoclonus, ... OMIM:616640
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Difficulty walking, Ventriculomegaly, Cerebellar vermis hypoplasia, Ataxia, Dilated fourt... ORPHA:572798
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Mild short stature, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the... ORPHA:93315
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Severe short stature, Thoracolumbar scoliosis, Knee flexion contracture,... OMIM:313420
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Tremor, Rigidity, Dementia, Poor motor coordination, Chorea, Ventriculomegaly, Ataxia, ... ORPHA:25
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Ventriculomegaly, Hypertonia, Growth delay OMIM:617248
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly ORPHA:500166
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Vertebral segme... OMIM:609813
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Clumsiness, Kyphosis, Knee clonus, Ataxia, Ankle clonus, Hand muscle atrophy, Abnormal... OMIM:211530
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Tremor, Torsion dystonia, Kyphosis, Hypertonia, Blepharospasm, Writer's... OMIM:128100
Seckel Syndrome
Scoliosis, Intrauterine growth retardation, Cachexia, Short stature, Cognitive impairment ORPHA:808
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Cerebellar hypoplasia, Decreased body weight, Ataxia, Intrauterine growth retar... ORPHA:255138
Rasmussen Subacute Encephalitis
Inability to walk, Involuntary movements, Ventriculomegaly, Hemiparesis, Hemidystonia, Hyperactiv... ORPHA:1929
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Scoliosis, Ventriculomegaly, Kyphosis, Oculomotor apraxia, Flexion contracture... OMIM:301041
Hereditary Late-Onset Parkinson Disease
Dystonia, Mental deterioration, Akinesia, Parkinsonism with favorable response to dopaminergic me... ORPHA:411602
Macdermot-Winter Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Ventriculomegaly OMIM:247990
Myopathy, Congenital, Bailey-Bloch
Ventriculomegaly, Flexion contracture, Short stature, Skeletal muscle atrophy, Kyphoscoliosis OMIM:255995
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Bilateral Polymicrogyria
Pseudobulbar paralysis, Arthrogryposis multiplex congenita, Spastic hemiparesis, Ventriculomegaly... ORPHA:268940
Mend Syndrome
Kyphosis, Hypertonia, Short stature, Hyperactivity, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Ventriculomegaly, Hypertonia, Growth delay, Short stature, Intrauterine ... ORPHA:1495
Asparagine Synthetase Deficiency
Ventriculomegaly, Diaphragmatic eventration, Cerebellar hypoplasia, Exaggerated startle response,... OMIM:615574
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Apraxia, Gait disturbance, Ventriculomegaly, Ataxia, Intrauterine growth reta... OMIM:616541
Srd5A3-Cdg
Kyphosis, Ataxia, Cerebellar atrophy, Abnormal cerebellum morphology, Abnormal cerebellar vermis ... ORPHA:324737
Trisomy 18
Camptodactyly of finger, Arnold-Chiari malformation, Hypertonia, Growth delay, Intrauterine growt... ORPHA:3380
Idiopathic Achalasia
Weight loss ORPHA:930
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi... OMIM:156530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Tremor, Ventriculomegaly, Flexion contracture, Limb tremor, Skeletal muscle atrophy, F... OMIM:218000
Combined Oxidative Phosphorylation Deficiency 14
Ventriculomegaly, Myoclonus, Cerebellar atrophy, Growth delay OMIM:614946
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Ventriculomegaly, Short stature, Dandy-Walker malformation ORPHA:262767
Oculogastrointestinal Muscular Dystrophy
Myopathy, Cachexia, Skeletal muscle atrophy ORPHA:1876
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Ventriculomegaly, Exaggerated startle response, Cerebellar atrophy, Short stature, Spasticity OMIM:618367
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Ventriculomegaly, Hypertonia,... ORPHA:2072
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Kyphosis, Generalized dystonia, Short stature, Mental deterioration ORPHA:79107
Fryns-Smeets-Thiry Syndrome
Scoliosis, Cachexia, Short stature ORPHA:2058
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Leukoencephalopathy, Cystic, Without Megalencephaly
Dystonia, Ventriculomegaly, Ataxia, Athetosis, Spasticity OMIM:612951
Schaaf-Yang Syndrome
Inability to walk, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Camptodactyly, Flexio... OMIM:615547
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:939
Crisponi Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Hypertonia, Flexion contracture, Cognitive impairment ORPHA:1545
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Scoliosis, Truncal ataxia, Ventriculomegaly, Growth delay, Spastic gait, Spastic tetraplegia, Dys... OMIM:619121
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Slender build, Facial hypotonia, Difficulty walking, Ventriculomegaly OMIM:611087
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Chorea, Ventriculomegaly, Hyperkinetic movements, Involuntary movements, Athetosis, Spa... OMIM:617493
Mitochondrial Dna Depletion Syndrome 11
Proximal amyotrophy, Kyphosis, Cerebellar hypoplasia, Spinal rigidity, Generalized amyotrophy, Fa... OMIM:615084
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Hemiplegia, Gait disturbance, Kyphosis, Hydrocephalus ORPHA:2181
Camurati-Engelmann Disease
Slender build, Scoliosis, Hyperlordosis, Abnormality of the vertebral column, Kyphosis, Ataxia, D... ORPHA:1328
48,Xxyy Syndrome
Scoliosis, Tremor, Ventriculomegaly, Ataxia, Stereotypy, Attention deficit hyperactivity disorder... ORPHA:10
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Cerebellar atrophy, Short stature, Obesity ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Truncal ataxia, Limb ataxia, Ventriculomegaly, Intrauterine growth retardation, Mental deterioration OMIM:619051
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Kyphosis, Cachexia, Short stature, Skeletal muscle atrophy ORPHA:1969
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Kyphosis, Cerebellar atrophy, Spinal rigidity, Generalized amyotrophy, ... ORPHA:352447
Spastic Paraplegia 51, Autosomal Recessive
Spastic paraplegia, Decreased muscle mass, Facial hypotonia, Ventriculomegaly, Flexion contractur... OMIM:613744
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Increased endomysial connective tissue, ... ORPHA:178148
Postencephalitic Parkinsonism
Cogwheel rigidity, Paresthesia, Akinesia, Camptocormia, Kyphosis, Abnormal pyramidal sign, Restin... ORPHA:97349
Linear Verrucous Nevus Syndrome
Scoliosis, Ventriculomegaly, Mental deterioration, Dandy-Walker malformation ORPHA:2611
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Inability to walk, Scoliosis, Ventriculomegaly, Hypertonia, Flexion contracture, Decreased body w... OMIM:617452
Mitochondrial Complex I Deficiency, Nuclear Type 37
Ventriculomegaly, Hypertonia, Growth delay, Opisthotonus, Cerebellar atrophy, Failure to thrive, ... OMIM:619272
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Growth delay, Cachexia, Failure to thrive ORPHA:217346
Majeed Syndrome
Failure to thrive, Flexion contracture, Cachexia, Weight loss ORPHA:77297
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Failure to thrive, Intrauterin... OMIM:234250
Mental Retardation, Autosomal Dominant 20
Inability to walk, Ventriculomegaly OMIM:613443
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Short stature,... ORPHA:1883
X-Linked Intellectual Disability Due To Gria3 Mutations
Slender build, Scoliosis, Facial hypotonia, Abnormality of muscle size, Pain insensitivity, Kypho... ORPHA:364028
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Oculomotor apraxia, Distal amyotrophy ORPHA:3454
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Scoliosis, Arthrogryposis multiplex congenita, Upper limb spasticity, Ventricu... OMIM:617193
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... ORPHA:1354
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Kyphosis, Short stature, Cognitive impairment, Hydrocephalus ORPHA:93274
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Short stature, Spasticity ORPHA:816
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Scoliosis, Tremor, Dystonia, Gait disturbance, Ventriculomegaly, Kyphosis, Spastic diplegia, Atax... OMIM:300966
Arnold-Chiari Malformation Type Ii
Difficulty walking, Paraparesis, Ventriculomegaly, Ataxia, Aqueductal stenosis, Somatic sensory d... ORPHA:1136
Smith-Magenis Syndrome
Scoliosis, Impaired pain sensation, Ventriculomegaly, Increased body weight, Stereotypy, Hyperact... OMIM:182290
Wieacker-Wolff Syndrome
Scoliosis, Hyperlordosis, Dystonia, Apraxia, Arthrogryposis multiplex congenita, Congenital foot ... OMIM:314580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Attention deficit hyperactivity disorder OMIM:617061
Nijmegen Breakage Syndrome
Cachexia, Skeletal muscle atrophy, Rhabdomyosarcoma, Short stature, Short neck, Mental deteriorat... ORPHA:647
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Short stature ORPHA:2786
Pontocerebellar Hypoplasia, Type 9
Macroglossia, Facial hypotonia, Ventriculomegaly, Clonus, Spasticity OMIM:615809
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Scoliosis, Ventriculomegaly, Short stature OMIM:611555
Fatal Familial Insomnia
Dementia, Weight loss, Myoclonus, Ataxia OMIM:600072
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Cerebellar hypoplasia, Cerebellar atrophy, Spasticity ORPHA:168486
Carey-Fineman-Ziter Syndrome
Scoliosis, Ventriculomegaly, Flexion contracture, Growth delay, Pectoralis hypoplasia, Facial pal... OMIM:254940
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Hereditary Central Diabetes Insipidus
Growth delay, Lethargy, Weight loss ORPHA:30925
Galloway-Mowat Syndrome 5
Ventriculomegaly, Ataxia, Spasticity OMIM:617731
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Ventriculomegaly, Hypertonia, Growth delay, Intrauterine growth retardat... ORPHA:2083
Brain Small Vessel Disease 2
Hemiplegia, Ventriculomegaly, Spastic tetraplegia, Growth delay OMIM:614483
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypomimic face, Abnormality of extrapyramidal motor function, Ventriculomegaly, Kyphosis, Hyperto... OMIM:617527
16P13.2 Microdeletion Syndrome
Scoliosis, Overweight, Ventriculomegaly, Gait disturbance, Kyphosis, Flexion contracture, Failure... ORPHA:500055
Recombinant Chromosome 8 Syndrome
Scoliosis, Ventriculomegaly, Hypertonia, Camptodactyly, Growth delay, Postnatal growth retardatio... OMIM:179613
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Kyphosis, Intrauterine growth retardation, Hydrocephalus, Dispro... ORPHA:2655
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly, Progressive spastic paraplegia, Obesity ORPHA:521390
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly, Hypertonia, Cerebellar hypoplasia, Ataxia, Failure to thrive, Short stature, In... ORPHA:3322
Cockayne Syndrome Type 2
Scoliosis, Difficulty walking, Gait disturbance, Kyphosis, Flexion contracture, Ataxia, Limb hype... ORPHA:90322
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Camptodactyly of toe, Difficulty walking, Marked muscular hypertrophy, Kyphosis, Joint... OMIM:300280
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Cerebellar hypoplasia, Spasticity OMIM:613730
Alexander Disease
Scoliosis, Hyperlordosis, Tremor, Chorea, Gait disturbance, Kyphosis, Abnormal pyramidal sign, At... ORPHA:58
Pontocerebellar Hypoplasia, Type 10
Ventriculomegaly, Hypertonia, Growth delay, Kyphoscoliosis, Spasticity OMIM:615803
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly, Cerebellar atrophy, Spasticity OMIM:618008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Rhizomelic Syndrome, Urbach Type
Abnormal form of the vertebral bodies, Rhizomelia, Kyphosis, Short stature, Cognitive impairment,... ORPHA:3098
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia OMIM:617622
Cardiomyopathy, Familial Restrictive, 1
Ventriculomegaly, Left ventricular hypertrophy OMIM:115210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Muscular dystrophy, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malforma... OMIM:615287
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Scoliosis, Facial hypotonia, Ventriculomegaly, Growth delay, Cerebellar atrophy, Attention defici... OMIM:618659
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Methylcobalamin Deficiency Type Cble
Scoliosis, Lethargy, Ventriculomegaly, Lower limb hypertonia, Postnatal growth retardation, Failu... ORPHA:2169
Bruck Syndrome 1
Scoliosis, Platyspondyly, Kyphosis, Knee flexion contracture, Short stature, Hip contracture, Elb... OMIM:259450
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Gait disturbance, Kyphosis, Spinal canal stenosis, Short... ORPHA:582
Oromandibular Dystonia
Hyperkinetic movements, Blepharospasm, Weight loss, Lingual dystonia, Laryngeal dystonia, Tortico... ORPHA:93958
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Scoliosis, Ventriculomegaly, Short stature, Spasticity OMIM:619059
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Dispropo... ORPHA:2772
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Abnormality of extrapyramidal motor function, Ventriculomegaly, Kyphosis, Progressive s... ORPHA:521426
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Hypertonia, Severe short stature, Vertebral segmentation defect ORPHA:2617
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Spastic paraplegia, Kyphosis, Flexion contracture, Exaggerated startle response, Dista... OMIM:609541
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Scoliosis, Tremor, Overweight, Upper limb spasticity, Ventriculomegaly, Spasti... OMIM:619229
19P13.12 Microdeletion Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Ventriculomegaly, Kyphosis, Aplasia/Hypoplasia of ... ORPHA:254346
Primary Myelofibrosis
Cachexia ORPHA:824
Histidinuria-Renal Tubular Defect Syndrome
Ventriculomegaly ORPHA:2158
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Thoracic kyphosis, Ventriculomegaly ORPHA:2172
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly ORPHA:85179
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck, Short stature OMIM:616455
Marden-Walker Syndrome
Scoliosis, Decreased muscle mass, Kyphosis, Camptodactyly, Cerebellar hypoplasia, Congenital cont... OMIM:248700
17P13.3 Microduplication Syndrome
Ventriculomegaly, Short neck ORPHA:217385
Cornelia De Lange Syndrome 5
Ventriculomegaly, Postnatal growth retardation, Truncal obesity, Short stature, Short neck OMIM:300882
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly ORPHA:168624
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Kyphosis, Left ventricular hypertrop... OMIM:619040
Combined Oxidative Phosphorylation Deficiency 3
Tremor, Dystonia, Ventriculomegaly, Rhabdomyolysis, Ataxia, Intrauterine growth retardation, Cogn... OMIM:610505
Noonan Syndrome 12
Ventriculomegaly, Spinal canal stenosis, Arnold-Chiari malformation OMIM:618624
Bannayan-Riley-Ruvalcaba Syndrome
Scoliosis, Cachexia, Short stature, Skeletal muscle atrophy, Myopathy ORPHA:109
Wilson Disease
Clumsiness, Difficulty walking, Back pain, Weight loss, Proximal muscle weakness in lower limbs, ... ORPHA:905
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal vertebral morphology, Ventriculomegaly, Cerebellar hypoplasia, Truncal obesity, Abnormal... ORPHA:3224
Mucopolysaccharidosis Type 6
Macroglossia, Ovoid vertebral bodies, Kyphosis, Disproportionate short-trunk short stature, Failu... ORPHA:583
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Cerebellar vermis hypoplasia, Oculomotor apraxia, Short stature, Hydrocephalus,... OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Scoliosis, Macroglossia, Cerebellar cyst, Partial absence of cerebellar vermis, Ventriculomegaly,... OMIM:613150
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Gait disturbance, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, A... OMIM:609757
Intellectual Developmental Disorder, X-Linked 103
Ventriculomegaly OMIM:300982
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Cerebellar atrophy, Failure to thrive OMIM:608776
Malan Overgrowth Syndrome
Ventriculomegaly, Scoliosis, Episodic ataxia, Dilation of lateral ventricles ORPHA:420179
Thymic Carcinoma
Fatigable weakness, Diaphragmatic paralysis, Weight loss ORPHA:99868
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Progressive inability to walk, Falls, Hyperactivity, Ph... ORPHA:2388
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Dan... ORPHA:163961
Eosinophilic Fasciitis
Myositis, Muscular edema, Paresthesia, Weight loss ORPHA:3165
Ogden Syndrome
Scoliosis, Lethargy, Ventriculomegaly, Hypertonia, Postnatal growth retardation, Torticollis, Shu... ORPHA:276432
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Oromotor apraxia, Ventriculomegaly, Growth delay, Cerebellar atrophy, Multiple joint contractures... ORPHA:466934
Desbuquois Dysplasia 1
Scoliosis, Hyperlordosis, Platyspondyly, Kyphosis, Growth delay, Severe short stature, Waddling g... OMIM:251450
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Beaking of vertebral bodies, Kyphosis, Dispro... OMIM:607326
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Mild short stature OMIM:130060
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Shor... ORPHA:763
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Facial hypotonia OMIM:618381
Orofaciodigital Syndrome Xvii