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Gene: Atxn1 MGI:104783

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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:
ataxin 1
Synonyms:
2900016G23Rik,  Atx1,  Sca1

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Loss of Purkinje cells in the cereb... ORPHA:98755
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Imp... OMIM:164400

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
X-Linked Complicated Spastic Paraplegia Type 1
Ataxia, Spastic paraplegia, Cognitive impairment, Mental deterioration, Upper motor neuron dysfun... ORPHA:306617
Spastic Paraplegia 88, Autosomal Dominant
Lower limb spasticity, Agenesis of cerebellar vermis, Unsteady gait, Babinski sign, Distal sensor... OMIM:620106
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spast... OMIM:611225
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Scolios... ORPHA:363717
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Hyperton... OMIM:613925
Juvenile Huntington Disease
Cerebellar atrophy, Ventriculomegaly, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Ga... ORPHA:248111
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... ORPHA:98934
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Clumsiness, Dementia, Abnormality ... ORPHA:79262
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign,... OMIM:614409
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality ... OMIM:615362
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplas... ORPHA:85278
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy,... ORPHA:157973
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus OMIM:125370
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Hypertonia, Olivopontocerebellar atrophy, Ventriculomegaly ORPHA:2732
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia,... OMIM:616230
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Progressive neurologic deterioration, Cachexia, Gait ataxia, Weight loss, Failure to thrive OMIM:612075
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, ... OMIM:312750
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Dementia, Scoliosis ORPHA:2047
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... ORPHA:319199
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of... ORPHA:370980
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Memory impairmen... ORPHA:401901
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ataxia, Spastic tetraparesis, Inability to walk, Cerebellar hypoplasia, Spastic gait, Ventriculom... OMIM:616486
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal vertebral morphology, V... OMIM:618709
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Ataxia, Kyphosis, Tongue fasciculations, Attention deficit hyperactivity disorder,... OMIM:620007
Intellectual Developmental Disorder, Autosomal Recessive 69
Ataxia, Facial hypotonia, Cerebellar hypoplasia, Spasticity, Ventriculomegaly OMIM:618383
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine... ORPHA:423275
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Short stature, Atax... OMIM:616756
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... ORPHA:3115
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Ventriculomegaly OMIM:613402
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Ventriculomegaly, Abnormal neuron morphology ORPHA:329228
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Cerebellar atrophy, Camptodactyly of finger, Slurred speech, Gait ataxia, Flexion contracture of ... OMIM:619323
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Cerebellar atrophy, Impaired distal vibration sensation, Abnormal p... OMIM:616680
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... OMIM:616668
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Ataxia, Kyphosis, Choreoathetosis, Gait di... ORPHA:702
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... ORPHA:157941
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Microcephaly 19, Primary, Autosomal Recessive
Spasticity, Failure to thrive in infancy, Ventriculomegaly, Decreased body weight OMIM:617800
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia... OMIM:619806
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder, Menta... OMIM:619191
Sandhoff Disease
Ataxia, Kyphosis, Progressive psychomotor deterioration, Motor deterioration, Failure to thrive ORPHA:796
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Ventriculomegaly OMIM:617862
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Scapular winging, Lower limb spasticity, Broad-based gait, Spinal... OMIM:615290
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Broad-based gait, Multiple joint contractures, Short stature, Babinsk... ORPHA:363429
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Progressive neurologic deterioration, Dysmetria, Myoclonus, Failure to t... OMIM:618251
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gai... OMIM:617145
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Inability to walk, Scoliosis, Spasticity, Failure to thrive, Ventriculomegaly, Hypomimic ... OMIM:619701
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
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Dementia, Dystonia, Memory imp... OMIM:606438
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness ORPHA:97229
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Sco... ORPHA:101078
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Short stature, Ataxia, Kyphosis, Slurred speech, Platyspondyly... OMIM:230650
Porencephaly
Hemiplegia/hemiparesis, Spasticity, Cerebral palsy, Ventriculomegaly ORPHA:2940
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly OMIM:618677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, K... ORPHA:459033
Spinocerebellar Ataxia 17
Cerebellar atrophy, Broad-based gait, Ataxia, Parkinsonism, Confusion, Rigidity, Chorea, Limb ata... OMIM:607136
Masa Syndrome
Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia,... OMIM:303350
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Distal sensory impairment, Scoliosis, Difficulty walking, Lower ... OMIM:617087
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu... ORPHA:208513
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Short stature, Cachexia, Ventriculomegaly ORPHA:1933
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... OMIM:137440
Spinocerebellar Ataxia 5
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Ataxia, Kyphosis, Abnormal pyramida... ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc... ORPHA:137831
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Inability ... OMIM:616801
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Generalized amyotrophy, Scoliosis, Myoclonus, Action myoclonus, Frequent falls, Vent... OMIM:616540
Mcdonough Syndrome
Short stature, Cachexia, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral palsy, Spastic tetraplegia, Ventriculomegaly OMIM:612900
Masa Syndrome
Short stature, Camptodactyly of finger, Hemiplegia/hemiparesis, Spastic paraplegia, Gait disturba... ORPHA:2466
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Kyphosis, Gait disturbance, Sco... ORPHA:85317
Horizontal Gaze Palsy With Progressive Scoliosis
Cognitive impairment, Kyphosis, Scoliosis, Short neck ORPHA:2744
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrop... OMIM:617404
Hsd10 Disease
Short attention span, Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Ga... ORPHA:391417
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Skeletal muscle atrophy, Impaired vibratory sensation, Lower limb spasticity,... ORPHA:88644
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Fatigable weakness, Myopathy, Distal arthrogryposis, F... ORPHA:42
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:1188
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Short stature, Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory ... OMIM:618124
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Short stature, Ataxia, Poor motor coordination, Tre... ORPHA:1170
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... OMIM:603472
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia, Ventric... OMIM:203740
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Kyphosis, Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Intra... OMIM:618237
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... OMIM:616204
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Short stature, Ataxia, Centrally nucleated skeletal ... OMIM:248800
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosi... OMIM:618241
Huntington Disease
Bradyphrenia, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babin... ORPHA:399
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... OMIM:208920
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait... ORPHA:99014
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Short stature, Inability to walk, Unsteady gait, Cerebellar hypopla... OMIM:618273
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa... OMIM:620158
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Limb joint contracture, Cachexia, Flexion contracture, Babinski sign, Facial ... OMIM:618186
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Spastic tetra... ORPHA:3208
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Developmental And Epileptic Encephalopathy 59
Inability to walk, Ventriculomegaly, Ataxia, Scoliosis OMIM:617904
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia, Spasticity, Ventriculomegaly OMIM:301107
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... OMIM:117360
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Chorea, Poor coordination, Falls, Dystonia, Ventriculomegaly, Paroxysmal dyskinesia OMIM:619150
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Ventriculomegaly OMIM:619561
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of... OMIM:611890
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Short st... ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ... OMIM:610743
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Gait ataxi... ORPHA:500180
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclon... OMIM:614254
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Brady... OMIM:617435
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... ORPHA:298
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Short stature, Overweight, Inability to walk, Flexion contracture, Babinski sign, ... OMIM:614066
Polymicrogyria, Bilateral Temporooccipital
Delirium, Ventriculomegaly OMIM:612691
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraple... ORPHA:371364
Bowen-Conradi Syndrome
Short stature, Camptodactyly of finger, Severe postnatal growth retardation, Severe intrauterine ... ORPHA:1270
X-Linked Creatine Transporter Deficiency
Ataxia, Short stature, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ... OMIM:611390
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Broad-based gait, Dementia, Ataxia, Ventriculomegaly OMIM:206570
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Hypertonia, Spastic tetraplegia, Ventriculomegaly OMIM:618730
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... OMIM:128100
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint con... OMIM:617977
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... ORPHA:98805
Mehmo Syndrome
Small for gestational age, Spastic tetraparesis, Inability to walk, Babinski sign, Obesity, Gait ... OMIM:300148
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Small for gestational age, Short stature, Kyphosis, Decreased body weight OMIM:618392
Lissencephaly 1
Spastic tetraparesis, Cerebellar hypoplasia, Ventriculomegaly OMIM:607432
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Intr... OMIM:619922
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A... ORPHA:98759
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Cachexia, Progressive neurologic deterioration,... ORPHA:206436
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Cognitive impairment OMIM:613909
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Hypoplasia of the pons, Babinski sign, Dysmetria, Ankle clonus, Hypertonia, Cer... OMIM:606854
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc... OMIM:183090
Kohlschutter-Tonz Syndrome
Ataxia, Dementia, Cerebellar hypoplasia, Spasticity, Ventriculomegaly OMIM:226750
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Microcephaly 5, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Short stature, Cerebellar hypoplasia, Ventriculomegaly OMIM:608716
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Spastic tetraplegia, Ventriculomegaly OMIM:611603
Narp Syndrome
Short stature, Ataxia, Babinski sign, Progressive gait ataxia, Dementia, Myoclonic spasms, Abnorm... ORPHA:644
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the cerebellum, Short stature, Ventriculomegaly ORPHA:3207
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li... ORPHA:3095
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:604213
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Microcephaly 17, Primary, Autosomal Recessive
Short stature, Hypertonia, Cerebellar hypoplasia, Spasticity, Failure to thrive, Ventriculomegaly OMIM:617090
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Limb tremor, Hypertonia, Myoclonus, Slender build, Ventriculomegaly OMIM:300699
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Choreoathetosis, ... OMIM:616034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Hyperlordosis, Inability to walk, Flexion contracture... OMIM:613156
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Cdkl5-Deficiency Disorder
Impaired pain sensation, Kyphosis, Growth delay, Gait disturbance, Scoliosis, Difficulty walking ORPHA:505652
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Microlissencephaly
Cerebellar atrophy, Hypertonia, Ventriculomegaly ORPHA:1083
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis OMIM:300861
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Loss of Purkinje cells in the cereb... ORPHA:98755
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, S... OMIM:617493
Ventriculomegaly And Arthrogryposis
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Short stature, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis,... ORPHA:85293
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Athetosis, Dystonia, Spasticity, Ventriculomegaly OMIM:612951
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... ORPHA:216866
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Short stature ORPHA:85288
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Short stature, Small for gestational age... OMIM:300957
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle mu... ORPHA:171436
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... ORPHA:99750
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... OMIM:616267
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... OMIM:616471
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Pulmonary Blastoma
Weight loss ORPHA:64741
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Progressive neurologic deterioration, Head titubation, Truncal ataxia, Failure to thriv... ORPHA:88639
Renpenning Syndrome
Growth delay, Skeletal muscle atrophy, Severe short stature, Cachexia ORPHA:3242
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Short stature, Large for gestational age, Growth delay, Ventriculomegaly OMIM:616116
Congenital Disorder Of Glycosylation, Type Iih
Cerebellar atrophy, Ataxia, Failure to thrive in infancy, Scoliosis, Ventriculomegaly OMIM:611182
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Confusion, Hydrocephalus, Spasticity ORPHA:220295
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Camptodactyly of finger, Cachexia ORPHA:2774
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Short stature, Progressive psychomotor deterioration, Growth delay, Progressive spasticit... ORPHA:251009
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphol... ORPHA:75840
Isaacs Syndrome
Calf muscle hypertrophy, Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Ventriculomegaly, Intrauterine growth ... OMIM:616570
Catel-Manzke Syndrome
Short stature, Camptodactyly of finger, Scoliosis, Failure to thrive, Ventriculomegaly ORPHA:1388
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Ventriculomegaly, Short stature, Tremor, Kyphosis, Gait ataxia, Mac... OMIM:300354
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... OMIM:271530
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity ORPHA:2429
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Knee flexion contracture, Cer... OMIM:616531
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Cerebellar vermis... OMIM:617988
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Short stature, Small for gestational age, Kyphosis, Congenital contracture, Hyper... ORPHA:352490
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short stature, Camptodactyly OMIM:618453
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, ... ORPHA:171629
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Hydrocephalus, Spastic tetraplegia, Chiari ... OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss... OMIM:607155
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athe... OMIM:617710
Bonnemann-Meinecke-Reich Syndrome
Spasticity, Short stature, Ventriculomegaly ORPHA:1261
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Gait disturbance ORPHA:1875
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle... OMIM:255200
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Babinski sign, Viral infection-induced rhabdom... ORPHA:2524
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Ragged-red muscle fibers, Weight loss, Distal sensory impairment, Distal ... OMIM:603041
Perry Syndrome
Parkinsonism, Tremor, Weight loss, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... OMIM:618484
Optic Atrophy 11
Short stature, Ataxia, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Hyperkinetic movement... OMIM:617302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Hypoplasia of the pons, Cerebellar hypoplasia, Muscular dystrophy, Congenital muscular dystrophy,... OMIM:613151
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Ventriculomegaly, Progressive neurologic deterioration OMIM:611722
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly ORPHA:1568
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Short neck ORPHA:1438
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Frontotemporal dementia, Weight loss, Bradykinesia, Dys... OMIM:168605
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Spastic tetraplegia, Growth ... OMIM:605013
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... ORPHA:845
Tetrasomy 12P
Short stature, Cachexia, Short neck ORPHA:884
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v... ORPHA:800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity OMIM:619255
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Cerebellar atrophy, Torticollis, Short stature, Ataxia, Unilateral facial palsy, Scoliosis, Ventr... OMIM:618547
Whipple Disease
Myositis, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus ORPHA:3452
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Intention t... ORPHA:191
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Spastic diplegia, Tetraparesis, Failure to thrive, Ventriculomegaly ORPHA:255182
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Cerebellar vermis hypoplasia, Short stature, Small for gestational age, Hydroceph... OMIM:609757
Leukoencephalopathy With Vanishing White Matter 4
Spasticity, Unsteady gait, Ventriculomegaly OMIM:620314
Tuberculosis
Weight loss ORPHA:3389
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Short stature, Tremor, Kyphosis, Flexion contracture ORPHA:87876
Aredyld Syndrome
Cachexia, Short stature, Scoliosis, Intrauterine growth retardation ORPHA:1133
Microcephaly-Cardiomyopathy Syndrome
Cognitive impairment, Intrauterine growth retardation, Short stature, Ventriculomegaly ORPHA:2515
Silver-Russell Syndrome
Decreased muscle mass, Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth re... ORPHA:813
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, F... ORPHA:97355
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Kyphosis, Flexion contracture, Babinski sign, Sp... OMIM:609541
Gm1-Gangliosidosis, Type Ii
Ataxia, Progressive psychomotor deterioration, Spastic tetraplegia, Hypoplastic vertebral bodies,... OMIM:230600
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Left ventricular hypertrophy, Failure t... OMIM:618228
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Imp... OMIM:164400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosis, Flexion contracture, La... ORPHA:79243
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Ventric... OMIM:312170
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Small for gestational age, Kyphoscoliosis, Progressive neu... OMIM:214150
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly, Flexion contracture, Spastic tetraparesis, Scoliosis OMIM:618298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Muscular dystrophy, Ventriculomegaly OMIM:614830
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Sacral dimple, Cerebral palsy, Limb joint contracture, Short stature, Ataxia, Short neck, Inabili... ORPHA:505237
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Short stature, Ataxia, Hyper... ORPHA:354
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Obesity, Chiari type I malformation, Choreoathet... ORPHA:261197
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Attention deficit hyperactivity dis... ORPHA:467166
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Hypoplasia of the pons, Spastic tetraplegia, Abnormality of extrapyramid... OMIM:619527
Borjeson-Forssman-Lehmann Syndrome
Short stature, Kyphosis, Obesity, Scoliosis, Delayed puberty, Scheuermann-like vertebral changes,... OMIM:301900
Pontocerebellar Hypoplasia, Type 9
Facial hypotonia, Clonus, Hypoplasia of the pons, Macroglossia, Hypertonia, Cerebellar hypoplasia... OMIM:615809
Trisomy 5P
Ventriculomegaly, Short stature, Obesity, Scoliosis ORPHA:1742
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Short stature, Obesity, Scoliosis ORPHA:276630
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Poor coordination, Scoliosis, Failure to thrive, Ventriculomegaly OMIM:610965
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Growth delay, Facial diplegia, Scoli... OMIM:619121
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Progressive neurologic deterioration, Craniofacial dystonia, Cerebella... OMIM:618253
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,... ORPHA:370959
Superficial Siderosis
Back pain, Enlarged sylvian cistern, Impaired temperature sensation, Abnormal pyramidal sign, Dys... ORPHA:247245
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... ORPHA:765
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Cerebellar vermis hypoplasia, Facial hypotonia, Gait ataxia, Difficulty walking... OMIM:617807
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Ventriculomegaly,... OMIM:612936
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... ORPHA:272
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Short stature, Scoliosis OMIM:300434
Cog8-Cdg
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Myoclonus, Failure to thrive, Ventriculomegaly ORPHA:95428
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Flexion contracture, Cachexia, Weight loss ORPHA:1979
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... OMIM:254090
Nasu-Hakola Disease
Hydrocephalus, Chorea, Frontal lobe dementia, Oculomotor apraxia, Memory impairment, Spasticity, ... ORPHA:2770
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Involuntary movements, Flexion contracture, Babinski sign, Spasticity, Ankle ... OMIM:618397
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Short stature, Kyphosis, Hypertonia, Scoliosis, Arthro... OMIM:615834
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form o... ORPHA:812
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:88628
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Abnormal cerebellum... OMIM:211530
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit... ORPHA:485350
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Hypertoni... OMIM:308350
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Spastic Paraplegia 51, Autosomal Recessive
Cerebellar atrophy, Decreased muscle mass, Facial hypotonia, Short stature, Overweight, Inability... OMIM:613744
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Short stature, Flexion contracture, Spastic tetraplegia, Opisthotonus, Hypert... OMIM:615851
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Opisthotonus, Ce... OMIM:612389
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Gillespie Syndrome
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Ventriculomegaly OMIM:206700
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Growth delay, Cerebellar hypoplasia, Scoliosis, Intrauterine growth... ORPHA:238750
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, Dystonia, Intrauterine growth retardation, Spasticity, Ventric... OMIM:610333
Idiopathic Achalasia
Weight loss ORPHA:930
Seckel Syndrome
Short stature, Cachexia, Cognitive impairment, Scoliosis, Intrauterine growth retardation ORPHA:808
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Dementia, Shuffling ... ORPHA:411602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Muscular ... OMIM:613153
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Cerebellar vermis hypoplasia... OMIM:618291
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Cognitive impairment, Attent... ORPHA:1929
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Dementia, Myoclonus, ... OMIM:616640
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty ORPHA:2598
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Short neck, Po... OMIM:300966
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Myopathy, Scoliosis OMIM:618234
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... OMIM:301041
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Scoliosis, Decreased body weight, Spasticity, Ventriculomegaly OMIM:300958
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... ORPHA:1328
Congenital Toxoplasmosis
Failure to thrive in infancy, Hydrocephalus, Cognitive impairment, Intrauterine growth retardatio... ORPHA:858
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Mental deterioration, Loss of ambulation, Freque... OMIM:620166
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Trisomy 18
Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Growth delay, ... ORPHA:3380
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Hydrocephalus, Upper motor neuron dysfunction, Hemiparesis, Gait d... ORPHA:395
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Hydrocephalus, Gait ataxia, Scoliosis, Intraut... OMIM:616355
Fryns-Smeets-Thiry Syndrome
Cachexia, Short stature, Scoliosis ORPHA:2058
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Short stature, Short neck, Inability to walk, Flexion contracture, Spastic tetrapl... OMIM:617452
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Short attention span, Bradyphrenia, Facial hypotonia, Obesity, Poor fine motor co... ORPHA:589821
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... ORPHA:25
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Hemiplegia ORPHA:2181
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... OMIM:313420
Cornelia De Lange Syndrome 2
Short stature, Short neck, Postnatal growth retardation, Cognitive impairment, Intrauterine growt... OMIM:300590
Multiple Sulfatase Deficiency
Cerebellar atrophy, Short stature, Ataxia, Hydrocephalus, Hypoplastic vertebral bodies, Spasticit... OMIM:272200
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... ORPHA:2635
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis, Ragg... OMIM:615084
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Oculomotor apraxia, Spastic paraplegia, Lim... ORPHA:2072
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Short attention span, Ataxia, Inability to walk, Gait ataxia, Choreoathetosis... OMIM:619580
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Short stature, Tremor, Attention deficit hyperactivity disorder, Decreased ... OMIM:618342
Majeed Syndrome
Failure to thrive, Flexion contracture, Cachexia, Weight loss ORPHA:77297
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hemiparesis, Cerebellar hypoplasia, Dystonia, Ven... OMIM:618004
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly ORPHA:324416
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Facial hypotonia, Short stature, Kyphosis, Babi... ORPHA:364028
Srd5A3-Cdg
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal cerebellum morphology,... ORPHA:324737
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Short stature, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, Inab... OMIM:618443
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Mental deterioration, Intrauterine growth retardation, Ventriculomegaly OMIM:619051
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Kyphosis, Ventriculomegaly, Scoliosis OMIM:619797
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Cerebellar hypoplasia, Decreased body weight, Intrauterine growth retardation, Ventriculo... ORPHA:255138
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tremor, Inability to walk, Flexion contracture, Limb tremor, Facial dipl... OMIM:218000
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Growth delay, Hypertonia, Intrauterine growth retardation... ORPHA:1495
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Severe short... ORPHA:93314
Joubert Syndrome 31
Oculomotor apraxia, Ventriculomegaly, Truncal ataxia OMIM:617761
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Pettigrew Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Flexion contr... OMIM:304340
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Ventriculomegaly, Scoliosis, Spasticity ORPHA:457260
Wolman Disease
Growth delay, Cachexia ORPHA:75233
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Scoliosis, Attention deficit hyperactivity disorder, Ventriculomegaly ORPHA:10
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis, Cognitive impairment ORPHA:1545
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... OMIM:234250
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia OMIM:175500
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis ORPHA:1969
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Opist... OMIM:614969
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally ... OMIM:620351
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Short stature, Hyperlordosis, Kyphosis, Obesity ORPHA:3085
Schaaf-Yang Syndrome
Short stature, Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Ob... OMIM:615547
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Spasticity, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Ventricu... OMIM:304100
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Wieacker-Wolff Syndrome
Dystonia, Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contr... OMIM:314580
Short Stature, Microcephaly, And Endocrine Dysfunction
Ventriculomegaly, Broad-based gait, Short stature, Ataxia, Dysmetria, Truncal obesity, Dysdiadoch... OMIM:616541
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor function, Dystonia,... OMIM:616299
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Ventriculomegaly ORPHA:939
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Small for gestational age, Ataxia, Type 2 muscle fib... OMIM:615471
Bilateral Polymicrogyria
Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Cerebella... ORPHA:268940
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Overweight, Kyphosis, Hydrocephalus, Flexion contracture, Gait ... ORPHA:500055
Sjögren-Larsson Syndrome
Short stature, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Metatropic Dysplasia
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... OMIM:156530
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Winchester Syndrome
Kyphosis OMIM:277950
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Spastic tetr... OMIM:619909
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Growth delay, Hypertonia,... OMIM:619272
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy, Retrocerebellar cyst, Cerebellar hypoplasia, Ve... OMIM:617255
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Short stature, Ataxia, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Scolio... OMIM:619833
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Dpm1-Cdg
Cerebellar atrophy, Ataxia, Knee flexion contracture, Pontocerebellar atrophy, Camptodactyly, Mus... ORPHA:79322
Hogue-Janssen Syndrome 2
Facial hypotonia, Inability to walk, Hydrocephalus, Gait ataxia, Scoliosis, Ventriculomegaly OMIM:616362
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Cerebellar atrophy, Spinal rigidity, Kyphosis, Ragged-red muscle ... ORPHA:352447
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis,... ORPHA:1883
Fatal Familial Insomnia
Dementia, Ataxia, Myoclonus, Weight loss OMIM:600072
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Short stature, Kyphosis, Macroglossia, Scoliosis, Mental deterioration ORPHA:79107
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Inability to walk, Difficulty walking, Slender build, Ventriculomegaly OMIM:611087
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Spasticity, Failure to thrive, Short stature, Ventriculomegaly OMIM:615286
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph... OMIM:300280
Galloway-Mowat Syndrome 5
Spasticity, Ataxia, Ventriculomegaly OMIM:617731
Thanatophoric Dysplasia Type 2
Short stature, Kyphosis, Hydrocephalus, Platyspondyly, Cognitive impairment, Ventriculomegaly ORPHA:93274
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Short stature, Ataxia, Postu... OMIM:301072
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cerebellar vermis hypoplasia, Inability to walk, Flexion contracture, Gait ataxia, Scoliosis, Att... OMIM:619383
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Contrac... OMIM:617527
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature ORPHA:2786
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Inability to walk, Gr... OMIM:617193
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydroceph... ORPHA:58
Brain Small Vessel Disease 2
Growth delay, Hemiplegia, Spastic tetraplegia, Ventriculomegaly OMIM:614483
Linear Verrucous Nevus Syndrome
Mental deterioration, Ventriculomegaly, Dandy-Walker malformation, Scoliosis ORPHA:2611
Hoyeraal-Hreidarsson Syndrome
Short stature, Ataxia, Hypertonia, Cerebellar hypoplasia, Intrauterine growth retardation, Failur... ORPHA:3322
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Cognitive... ORPHA:3098
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Short stature, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, ... OMIM:108145
Primary Myelofibrosis
Cachexia ORPHA:824
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Scoliosis ORPHA:109
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Ventriculomegaly, Short stature, Scoliosis OMIM:611555
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Attention deficit hyperactivity disorder, Ventriculomegaly OMIM:615433
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Ventriculomegaly, Progressive spastic paraplegia ORPHA:521390
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Short attention span, Ataxia, Overweight, Tremor, Inability to walk, Obesi... OMIM:619229
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Spasticity, Ventriculomegaly OMIM:618008
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Spasticity OMIM:600348
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Cerebellar agenesis, Dandy-Walker malform... OMIM:617967
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Dystonia, Hypoplasia of the pons, Cerebellar hypoplasia, Scoliosis, Myoc... OMIM:617669
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hypoplasia of the musculature, Akinesia, Hydrocephalus, Cerebellar hypoplasia, ... OMIM:225790
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic... ORPHA:90322
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Rhabdomyosarcoma, Short neck, Attention deficit... ORPHA:647
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, Scoliosis, Attention deficit hyperactivity disor... OMIM:618205
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, Exaggerated startle re... OMIM:615574
Emanuel Syndrome
Sacral dimple, Torticollis, Ventriculomegaly, Congenital diaphragmatic hernia, Kyphosis, Hydrocep... OMIM:609029
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Limb hypertonia, Contractures of the large join... ORPHA:521426
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Mental de... OMIM:278800
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Short neck, Growth delay, Hypertonia, Cognitive impairment, Intrauterine... ORPHA:2083
Mucopolysaccharidosis Type 4
Short stature, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait di... ORPHA:582
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Ataxia, Involuntary movements, Inability to walk, Chorea, Scoliosis, Dystonia... OMIM:617804
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Ventriculomegaly, Short stature, Scoliosis, Spasticity OMIM:619059
Bruck Syndrome 1
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... OMIM:259450
Warburg Micro Syndrome 3
Lower limb spasticity, Decreased muscle mass, Kyphoscoliosis, Postnatal growth retardation, Inabi... OMIM:614222
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Congenital contracture... OMIM:248700
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Kyphosis, Growth delay, Gait distur... ORPHA:261349
Smith-Magenis Syndrome
Short stature, Failure to thrive in infancy, Impaired pain sensation, Obesity, Abnormal form of t... ORPHA:819
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Scoliosis, Mild sh... OMIM:130060
Thymic Carcinoma
Fatigable weakness, Diaphragmatic paralysis, Weight loss ORPHA:99868
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Disproportionate sh... ORPHA:2655
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Hypertonia, Failure to thrive, Ventriculomegaly OMIM:609180
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia, Ventriculomegaly OMIM:617622
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Wilson Disease
Back pain, Increased body weight, Weight loss, Clumsiness, Proximal muscle weakness in lower limb... ORPHA:905
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Dysmetria, Knee fl... OMIM:619708
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Ventriculomegaly OMIM:617186
Eosinophilic Fasciitis
Myositis, Muscular edema, Paresthesia, Weight loss ORPHA:3165
Kleefstra Syndrome 2
Growth delay, Kyphosis, Scoliosis OMIM:617768
Rahman Syndrome
Ventriculomegaly, Hypertonia, Kyphoscoliosis, Camptodactyly OMIM:617537
Smith-Mccort Dysplasia 1
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... OMIM:607326
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... ORPHA:2388
Congenital Disorder Of Glycosylation, Type Il
Cerebellar atrophy, Kyphosis, Failure to thrive, Short neck OMIM:608776
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... ORPHA:583
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Kyphoscoliosis, Hypoplasia of the pons, Postnatal growth retardation, Attention de... OMIM:612513
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Thoracic kyphosis, Ventriculomegaly ORPHA:2172
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Hydrocephalus, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy... OMIM:613150
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Intrauterine growth retardation, Disproportionate short-lim... ORPHA:2772
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Desbuquois Dysplasia 1
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, ... OMIM:251450
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short stature, Short neck OMIM:616455
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Pain insensitivity, Short neck, Inability to walk by childhood/adolescence, Chiari t... OMIM:620224
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Cerebellar hypoplasia, Abnormal vertebral morphology, Abnormal cerebellar vermis... ORPHA:3224
15Q24 Microdeletion Syndrome
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Postnatal growth retar... ORPHA:94065
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Obesity, Oculomotor apraxia, Ventricu... OMIM:615630
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Hypoplasia of the pons, Growth delay, Cerebellar hypoplasia, Muscular dystr... ORPHA:88618
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Weight l... ORPHA:370348
Marfan Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Attention deficit hyperactivity disorder,... ORPHA:558
Lysosomal Acid Lipase Deficiency
Psychomotor deterioration, Cachexia, Weight loss, Cognitive impairment, Failure to thrive ORPHA:275761
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Flexion contracture, Tongue fasciculations, Ventriculomegaly OMIM:619851
Lynch Syndrome
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa... ORPHA:144
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:1858
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Scoliosis, Attention deficit hyperact... ORPHA:494344
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Spasticity, Ventriculomegaly, Limb hypertonia OMIM:616212
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventriculomegaly, Short stature, Hyperlordosis, Coronal cleft vertebrae, Scolio... OMIM:618870
Brain Malformations With Or Without Urinary Tract Defects
Chiari type I malformation, Cognitive impairment, Failure to thrive, Ventriculomegaly OMIM:613735
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
Alg8-Cdg
Small for gestational age, Ataxia, Macroglossia, Camptodactyly, Intrauterine growth retardation, ... ORPHA:79325
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Spasticity, Ventric... ORPHA:500144
Malan Overgrowth Syndrome
Episodic ataxia, Ventriculomegaly, Scoliosis, Lateral ventricle dilatation ORPHA:420179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Lateral ventricle d... OMIM:613154
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
19P13.12 Microdeletion Syndrome
Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Obesity, Scoliosis, Arthrogryp... ORPHA:254346
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Ogden Syndrome
Torticollis, Postnatal growth retardation, Hypertonia, Shuffling gait, Scoliosis, Ventriculomegaly ORPHA:276432
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Cerebellar vermis hypoplasia, Gait ataxia, Ret... OMIM:300486
Parkinson Disease 4, Autosomal Dominant
Dementia, Parkinsonism, Weight loss OMIM:605543
Mucolipidosis Iii Gamma
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:252605
Orofaciodigital Syndrome Xvii
Decreased body weight, Short stature, Ventriculomegaly, Short neck OMIM:617926
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal ... ORPHA:828
3C Syndrome
Ventriculomegaly, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hydrocephalu... ORPHA:7
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Fatigable weakness of speech muscles, Cerebellar atrophy, Limb joint contracture, Facial hypotoni... ORPHA:404454
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphos... OMIM:617011
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa... ORPHA:440437
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hydrocephalus, Lower limb hypertonia, Scoliosis, Intrauterine growt... ORPHA:2169
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Multiple joint contractures, Oromotor apraxia, Growth delay, Spasticity, Vent... ORPHA:466934
Alg1-Cdg
Cerebellar atrophy, Kyphosis, Scoliosis ORPHA:79327
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malformation, Abnormality of the ce... ORPHA:221098
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Hydrocephalus, Disproportionate short stature, Spinal... ORPHA:15
Chromosome 18Q Deletion Syndrome
Broad-based gait, Short stature, Failure to thrive in infancy, Short neck, Tremor, Chorea, Poor c... OMIM:601808
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Arthrogryposis mu... OMIM:617143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Gait ataxia, Scoliosis, Attention deficit hyperactivity disorder, Failure to th... ORPHA:476126
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Mild short stature, Failure to thrive, Foot dorsiflexor weakness OMIM:169400
Holocarboxylase Synthetase Deficiency
Growth delay, Ataxia, Weight loss ORPHA:79242
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Hyperton... ORPHA:192
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Spasticity, Cerebellar hypoplasia, Ventriculomegaly OMIM:613730
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Failure to thrive in infancy, Cachexia ORPHA:37042
Intellectual Developmental Disorder, Autosomal Dominant 64
Growth delay, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Ventri... OMIM:619188
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature,... ORPHA:2020
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... ORPHA:59315
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Short neck, Flexion contracture, Platyspondyly, Cerebellar hypoplasia,... OMIM:616897
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Short neck, Weight loss, Severe short-limb dwarfism, Failure to thrive ORPHA:1842
Fg Syndrome Type 1
Sacral dimple, Broad-based gait, Progressive flexion contractures, Short stature, Abnormal cerebe... ORPHA:93932
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Opisthotonus, Colpocephaly, Myoclonus, Fa... OMIM:620352
Shashi-Pena Syndrome
Kyphosis, Mild fetal ventriculomegaly, Scoliosis, Cervical C2/C3 vertebral fusion, Intrauterine g... OMIM:617190
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for ge... ORPHA:457359
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Intrauterine... ORPHA:628
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Spastic tetraplegia, Col... OMIM:618651
Subaortic Stenosis-Short Stature Syndrome
Short stature, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:3191
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Lethal short-limbed short stature, Cerebellar hypoplasia, Ventriculomegaly OMIM:187601
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, V... OMIM:603387
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe ORPHA:3409
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Ventriculomegaly, Cerebellar vermis hypoplasia, Short stature, F... ORPHA:397715
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Scapular winging, Tremor, Kyphosis, Scoliosis, Attention deficit hyperactivit... OMIM:617061
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis OMIM:259440
Focal Myositis
Myositis, Weight loss ORPHA:48918
Trisomy 13
Kyphosis, Chiari malformation, Cognitive impairment, Scoliosis, Intrauterine growth retardation ORPHA:3378
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contrac... OMIM:618493
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Weight loss, Distal amyotrophy, Difficulty wal... OMIM:164310
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Weight loss OMIM:188580
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Fucosidosis
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o... ORPHA:349
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Joubert Syndrome 9
Oculomotor apraxia, Ventriculomegaly, Scoliosis OMIM:612285
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... OMIM:618321
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect... OMIM:253220
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Hydrocephalus, ... ORPHA:2461
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Dandy-Walker malformation, Dystonia, Short stature, Small for gestational age... OMIM:251300
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Slc39A8-Cdg
Cerebellar atrophy, Short stature, Failure to thrive in infancy, Inability to walk, Elbow flexion... ORPHA:468699
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Tremor, Kyphosis, Unsteady gait, Myopathy, Dystonia, Spasticity, Failure... OMIM:615512
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Ab... ORPHA:93360
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph... ORPHA:2311
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Developmental And Epileptic Encephalopathy 84
Chorea, Babinski sign, Opisthotonus, Dystonia, Spasticity, Ventriculomegaly OMIM:618792
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Punctate ... OMIM:302960
Prader-Willi Syndrome
Decreased muscle mass, Short stature, Failure to thrive in infancy, Impaired pain sensation, Kyph... OMIM:176270
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... ORPHA:1358
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Dif... ORPHA:488627
Luscan-Lumish Syndrome
Short stature, Slurred speech, Obesity, Chiari malformation, Ventriculomegaly OMIM:616831
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Vent... ORPHA:60040
Pseudo-Torch Syndrome 1
Cerebellar hypoplasia, Dystonia, Spasticity, Failure to thrive, Ventriculomegaly OMIM:251290
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Short stature, Ataxia, Tremor, Kyphosis, Severe postnatal gr... OMIM:216400
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:94080
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Choreoathetosis, Ventriculomegaly OMIM:619603
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Hydroc... OMIM:617281
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp... OMIM:253010
Tenorio Syndrome
Cerebral palsy, Hydrocephalus, Clumsiness, Macroglossia, Gait disturbance, Scoliosis, Ventriculom... OMIM:616260
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Bruck Syndrome
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita ORPHA:2771
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Ruvalcaba Syndrome
Kyphosis, Short stature, Scoliosis, Delayed puberty OMIM:180870
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Kyphosis, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... OMIM:223800
Marshall-Smith Syndrome
Ventriculomegaly, Failure to thrive, Cerebellar hypoplasia, Scoliosis ORPHA:561
Magel2-Related Prader-Willi-Like Syndrome
Short stature, Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weig... ORPHA:398069
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hydrocephalus, Abnormality of the vertebral column, Absent extraocular muscles, Ve... OMIM:109120
Alpha-Mannosidosis
Macroglossia, Kyphosis, Scoliosis, Short neck ORPHA:61
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae ORPHA:2522
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Hydrocephalus, Short stature, Ventriculomegaly OMIM:218350
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Norrie Disease
Clonus, Cachexia, Hypertonia, Scoliosis, Delayed puberty, Aplasia/Hypoplasia of the cerebellum, A... ORPHA:649
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax... OMIM:619475
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Trisomy 20P
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:261318
Tatton-Brown-Rahman Syndrome
Proportionate short stature, Kyphoscoliosis, Obesity, Chiari malformation, Ventriculomegaly ORPHA:404443
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Kyphosis, Birth length l... ORPHA:464311
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Growth delay, A... ORPHA:251071
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Short stature, Short neck, Kyphosis, Hydrocephalus, Chia... OMIM:130720
Micro Syndrome
Cerebellar vermis hypoplasia, Short stature, Kyphosis, Abnormal cerebellum morphology, Scoliosis,... ORPHA:2510
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Short stature, Kyphosis, Hemivertebrae, Abnorm... ORPHA:2916
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Congenital diaphragmatic hernia, Hemiplegia/hemiparesis, Hydrocephalus, Cerebel... ORPHA:1647
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip... OMIM:618050
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Inability to walk, Ataxia, Ventriculomegaly OMIM:617563
Weaver Syndrome
Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Lateral ventricle dilata... OMIM:277590
Cadds
Cerebellar atrophy, Intrauterine growth retardation, Ventriculomegaly, Dystonia ORPHA:369942
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Tremor, Rhabdomyolysis, Cognitive impairment, Dystonia, Intrauterine growth retardation, ... OMIM:610505
Distal Triplication 15Q
Large for gestational age, Kyphosis, Hydrocephalus, Flexion contracture, Scoliosis, Camptodactyly... ORPHA:314588
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Spastic tetraplegia, Athetosis, Hypertonia, Intrauterine growth retardation, Spast... ORPHA:79351
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Pleural Mesothelioma
Weight loss ORPHA:50251
Follicular Lymphoma
Weight loss ORPHA:545
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Ataxia, Short stature, Ventriculomegaly OMIM:610651
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Spasticity, Flexion contracture, Ventriculomegaly OMIM:616683
Distal Deletion 3P
Sacral dimple, Short stature, Short neck, Cognitive impairment, Intrauterine growth retardation, ... ORPHA:1620
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Tetraplegia, Opisthotonus, Progressive spastic quadriplegia, Scolio... ORPHA:95232
Pycnodysostosis
Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis, Scoliosis, D... ORPHA:763
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Short neck... ORPHA:444072
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar mus... OMIM:612394
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Spastic tetraparesis, Scoliosis, Failure to thrive, Ventriculomegaly OMIM:619179
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Progressive neurologic deterioration, Hydrocephalus, Flexion contract... ORPHA:581
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Mosaic Variegated Aneuploidy Syndrome 1
Short stature, Small for gestational age, Short neck, Postnatal growth retardation, Hydrocephalus... OMIM:257300
Gaucher Disease, Perinatal Lethal
Akinesia, Progressive neurologic deterioration, Opisthotonus, Decreased body weight, Arthrogrypos... OMIM:608013
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Lethal short-limbed... ORPHA:1860
1P31P32 Microdeletion Syndrome
Chiari type I malformation, Attention deficit hyperactivity disorder, Ventriculomegaly ORPHA:401986
Combined Oxidative Phosphorylation Deficiency 25
Cerebellar atrophy, Short stature, Hypoplasia of the pons, Failure to thrive, Ventriculomegaly OMIM:616430
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Subependymal cysts, Growth delay, Ti... ORPHA:3008
Sifrim-Hitz-Weiss Syndrome
Short stature, Fused cervical vertebrae, Chiari malformation, Gait imbalance, Ventriculomegaly OMIM:617159
Microsporidiosis
Myositis, Cachexia, Weight loss ORPHA:2552
Neurocutaneous Melanocytosis
Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation... ORPHA:2481
Hurler Syndrome
Short stature, Progressive neurologic deterioration, Short neck, Hypoplasia of the odontoid proce... OMIM:607014
Brachyolmia Type 3
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis OMIM:113500
Mucolipidosis Type Ii
Hip contracture, Short stature, Diastasis recti, Postnatal growth retardation, Kyphosis, Inabilit... ORPHA:576
Neu-Laxova Syndrome
Skeletal muscle atrophy, Ventriculomegaly, Flexion contracture, Opisthotonus, Muscular dystrophy,... ORPHA:2671
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hypotrophy o... OMIM:610443
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Short stature, Ataxia, Camptodactyly, Ventriculomegaly, Caudal appe... ORPHA:314679
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Elbow flexion contrac... OMIM:617301
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital diaphragmatic her... OMIM:265000
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Kyphosis, Chorea, Disproportionate short-tr... ORPHA:1855
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Mast Cell Sarcoma
Weight loss ORPHA:66661
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... OMIM:254940
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Cole-Carpenter Syndrome 2
Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Platyspondyly OMIM:616294
Pfapa Syndrome
Weight loss ORPHA:42642
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Short stature, Scoliosis ORPHA:2479
Alveolar Echinococcosis
Low back pain, Ataxia, Weight loss, Abnormal skeletal muscle morphology, Hemiparesis, Abnormality... ORPHA:284
Gm1-Gangliosidosis, Type I
Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, ... OMIM:230500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Multiple joint contractures, Severe short stature, Camptodactyly of finger, A... ORPHA:468631
Celiac Disease, Susceptibility To, 1
Short stature, Ataxia, Postnatal growth retardation, Weight loss, Delayed puberty, Failure to thrive OMIM:212750
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Cerebrofaciothoracic Dysplasia
Cerebellar vermis hypoplasia, Short stature, Short neck, Hemivertebrae, Vertebral segmentation de... ORPHA:1394
Fanconi Anemia, Complementation Group B
Short neck, Hydrocephalus, Growth delay, Cerebellar hypoplasia, Intrauterine growth retardation, ... OMIM:300514
Polymyositis
Weight loss, Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Ventriculomegaly, Dystonia OMIM:617903
Pigmented Nodular Adrenocortical Disease, Primary, 2
Mental deterioration, Kyphosis, Truncal obesity OMIM:610475
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebellar vermis hypoplasia, Small for gestational age, Short stature, Spastic tetraplegia, Hype... OMIM:620024
3M Syndrome
Scapular winging, Short stature, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis,... ORPHA:2616
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Abnormality of ... ORPHA:77301
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Dysesthesia, Myopathy, Scoliosis, Arthr... ORPHA:2953
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss ORPHA:324964
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal pons morphology, ... ORPHA:370997
Khan-Khan-Katsanis Syndrome
Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Colpocephaly, Hypertonia, Scoliosis, ... OMIM:618460
Juvenile Polyposis Of Infancy
Short stature, Cachexia ORPHA:79076
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Cerebel... OMIM:300967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Hydrocephalus, Muscular dystrophy, Increased variability in muscle ... OMIM:616538
Cowden Syndrome
Short stature, Ataxia, Kyphosis, Abnormal cerebellum morphology, Macroglossia, Scoliosis, Cogniti... ORPHA:201
Cole-Carpenter Syndrome
Communicating hydrocephalus, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scol... ORPHA:2050
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Short neck, Hydrocephalus, Growth delay, Congenital contracture, Colpocephaly, Ventriculomegaly OMIM:620156
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Kyphosis, Hydrocephalus, Flexion contracture, Abnormal form of th... ORPHA:3042
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Chiari malformation, Ventriculomegaly OMIM:617784
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation ORPHA:2075
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis, Intrauterine growth retardation ORPHA:2115
Trichothiodystrophy
Multiple joint contractures, Abnormal pyramidal sign, Gait ataxia, Hypertonia, Thoracic kyphosis,... ORPHA:33364
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short stature, Short neck ORPHA:3082
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Mild postnatal growth retardation, Progressive neurologic deterioration,... ORPHA:90324
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology, Intrauterine growt... ORPHA:3121
7Q11.23 Microduplication Syndrome
Sacral dimple, Short stature, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Unstead... ORPHA:96121
Fountain Syndrome
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Proteus Syndrome
Decreased muscle mass, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Myof... ORPHA:744
Hurler-Scheie Syndrome
Short stature, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the dista... OMIM:607015
Osteogenesis Imperfecta, Type Iii
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... OMIM:259420
Beta-Ketothiolase Deficiency
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss ORPHA:134
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Inability to walk, Lateral ventricle dilatation, Scoliosis, Difficulty walking, Spastic... ORPHA:464738
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Short neck, Kyphosis, Hydrocephalus, Flexion contracture, Ma... OMIM:309900
Cockayne Syndrome B
Severe short stature, Small for gestational age, Cerebellar calcifications, Ataxia, Postnatal gro... OMIM:133540
Takayasu Arteritis
Weight loss ORPHA:3287
Immunodeficiency 27A
Weight loss OMIM:209950
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Intrauterine ... OMIM:617602
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Attention deficit hyperactivity disorder, Scoliosis ORPHA:404440
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Short stature, Camptodactyly, Intrauterine growth retardation, Spasticity, Fa... OMIM:617729
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Kyphosis, Moderate postnatal growth retardation, Vertebral segmentation def... ORPHA:1005
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Short neck, Inability to walk, Macroglossia, Scoliosis,... ORPHA:488632
Koolen-De Vries Syndrome
Vertebral fusion, Short stature, Kyphosis, Vertebral segmentation defect, Scoliosis, Ventriculome... ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Kyphosis, Scoliosis, Decreased body weight, Attention deficit hyperactiv... OMIM:619005
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Short stature, Small for gestational age, Kyphosis, Gait disturbance... ORPHA:464306
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Chorea, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon... OMIM:619777
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Hydrocephalus, Disproportionate... OMIM:616482
Marshall-Smith Syndrome
Thoracic scoliosis, Short stature, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:602535
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Chiari malformation, ... ORPHA:2789
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:2462
Osteogenesis Imperfecta
Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Loss of ambulation... ORPHA:666
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Neu-Laxova Syndrome 2
Short neck, Cerebellar hypoplasia, Scoliosis, Intrauterine growth retardation, Ventriculomegaly OMIM:616038
Sanjad-Sakati Syndrome
Short stature, Postnatal growth retardation, Spinal canal stenosis, Myopathy, Severe intrauterine... ORPHA:2323
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Growth delay, Scoliosis ORPHA:261144
Cerebellofaciodental Syndrome
Short stature, Short neck, Hypoplasia of the pons, Cerebellar hypoplasia, Scoliosis, Ventriculome... OMIM:616202
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Ventriculomegaly, Scoliosis, Spasticity OMIM:616449
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Dysostosis, Stanescu Type
Short stature, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Pigmented Nodular Adrenocortical Disease, Primary, 1
Mental deterioration, Kyphosis, Truncal obesity OMIM:610489
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Short stature, Extrapyramidal muscular rigidity, Dystonia,... ORPHA:51
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Falls, Difficulty walking, Dystonia, Ventriculomegaly OMIM:618222
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral ... ORPHA:280
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Myositis, Gait disturbance, Weight loss ORPHA:183
Behçet Disease
Myositis, Ataxia, Confusion, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait... ORPHA:117
Noonan Syndrome 14
Scapular winging, Short stature, Short neck, Kyphosis, Lateral ventricle dilatation OMIM:619745
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... ORPHA:958
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Severe short stature, Camptodactyly of ... ORPHA:2215
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Weight loss, Lower-limb joint contracture, Apraxia, Arthrogryposis multiplex congenita, F... ORPHA:99885
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Pos... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Pos... ORPHA:363958
Osteosarcoma
Weight loss ORPHA:668
Congenital Myopathy 13
Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Fatty replacement of skeletal muscle, Fle... OMIM:255995
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Kaposi Sarcoma
Weight loss ORPHA:33276
Riddle Syndrome
Short stature, Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Giant Cell Arteritis
Ataxia, Paresthesia, Weight loss ORPHA:397
15Q14 Microdeletion Syndrome
Kyphosis, Short stature, Scoliosis ORPHA:261190
Leishmaniasis
Weight loss ORPHA:507
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Chronic Beryllium Disease
Weight loss ORPHA:133
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Igg4-Related Aortitis
Low back pain, Weight loss ORPHA:449400
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis, Ventriculomegaly ORPHA:140
Cowden Syndrome 1
Kyphosis, Dysplastic gangliocytoma of the cerebellum, Scoliosis, Intention tremor OMIM:158350
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Lateral ventricle dilatation, Dilated third ventricle OMIM:619244
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Growth delay, Macroglossia... OMIM:301040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hydrocephalus, Camptodactyly of finger, Scoliosis OMIM:619951
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity ORPHA:20
Simple Cryoglobulinemia
Paresthesia, Spontaneous pain sensation, Progressive neurologic deterioration, Weight loss ORPHA:91139
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria, Attention deficit hyperactivity disorder OMIM:620185
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Mend Syndrome
Sacral dimple, Short stature, Kyphosis, Hydrocephalus, Failure to thrive, Dandy-Walker malformati... ORPHA:401973
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Spondyloperipheral Dysplasia
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... OMIM:271700
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Bohring-Opitz Syndrome
Ventriculomegaly, Facial hypotonia, Short stature, Inability to walk, Bilateral wrist flexion con... ORPHA:97297
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Desmosterolosis
Failure to thrive, Rhizomelia, Hydrocephalus, Arthrogryposis multiplex congenita, Spasticity, Joi... OMIM:602398
Poems Syndrome
Sclerotic vertebral endplates, Paresthesia, Hyperesthesia, Weight loss ORPHA:2905
16Q24.3 Microdeletion Syndrome
Kyphosis, Ventriculomegaly, Scoliosis, Colpocephaly ORPHA:261250
Polyarteritis Nodosa
Weight loss ORPHA:767
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Scapular winging, Kyphosis, Hydrocephalus, Intrauterine growth ret... OMIM:616914
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypert... OMIM:615846
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Short stature, Small for gestational age, Failure to thrive in i... ORPHA:268261
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... OMIM:618223
Erdheim-Chester Disease
Abnormal cerebellum morphology, Ataxia, Weight loss ORPHA:35687
Zttk Syndrome
Short stature, Kyphosis, Flexion contracture, Hemivertebrae, Growth delay, Cerebellar hypoplasia,... OMIM:617140
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Short stature, Involuntary movements, Kyphoscoliosis, Kyphosis, Inability ... ORPHA:3063
Cohen Syndrome
Short stature, Failure to thrive in infancy, Kyphosis, Obesity, Scoliosis, Delayed puberty, Intra... ORPHA:193
Mend Syndrome
Sacral dimple, Short stature, Kyphosis, Hydrocephalus, Hypertonia, Failure to thrive, Dandy-Walke... OMIM:300960
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Inability to walk, Ventriculomegaly, Truncal ataxia OMIM:620066
2Q31.1 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:251014
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormality of the diaphragm, Weight loss ORPHA:400
Kabuki Syndrome
Ventriculomegaly, Short stature, Congenital diaphragmatic hernia, Hydrocephalus, Vertebral clefti... ORPHA:2322
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Weight loss ORPHA:95427
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Smith-Lemli-Opitz Syndrome
Short stature, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal form o... ORPHA:818
Mgat2-Cdg
Kyphosis, Failure to thrive, Cerebellar hypoplasia, Scoliosis ORPHA:79329
Neurofibromatosis Type 1
Short stature, Ataxia, Kyphosis, Hydrocephalus, Paresthesia, Scoliosis, Delayed puberty, Attentio... ORPHA:636
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Alstrom Syndrome
Kyphosis, Short stature, Truncal obesity, Scoliosis OMIM:203800
Microphthalmia, Lenz Type
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis ORPHA:568
Aicardi Syndrome
Block vertebrae, Hemiplegia/hemiparesis, Hypertonia, Scoliosis, Delayed puberty, Aplasia/Hypoplas... ORPHA:50
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis OMIM:162300
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Waddling gait, Facial hypotonia, Small for gestational age, Tremor,... ORPHA:506358
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Yao Syndrome
Weight loss OMIM:617321
Linear Nevus Sebaceus Syndrome
Growth delay, Vertebral segmentation defect, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker m... ORPHA:2612
Hajdu-Cheney Syndrome
Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Chiari malf... ORPHA:955
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Plasminogen Deficiency, Type I
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Weight loss ORPHA:465508
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Kyphoscoliosis, Shor... OMIM:143095
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Nephroblastoma
Weight loss ORPHA:654
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Pemphigus Vulgaris
Weight loss ORPHA:704
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Short stature OMIM:239000
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Gait ataxia, Lower-limb joint contracture, Cerebellar hypoplasia, Failure to th... ORPHA:513456
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis OMIM:619557
Felty Syndrome
Weight loss ORPHA:47612
Ménétrier Disease
Weight loss ORPHA:2494
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Ventriculomegaly, Agenesis of cerebellar vermis, Hydrocephalus, Cere... OMIM:615287
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short stature, Ataxia, Short neck, Irregular vertebral endplates, Platyspondyly, Posterior scallo... OMIM:610442
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Osteogenesis Imperfecta, Type Iv
Kyphosis, Short stature, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Cerebellar vermis hypoplasia, Camptodactyly OMIM:619123
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Growth delay, Hypertonia, Dystonia, Failure to thrive, Ventriculomegaly OMIM:617248
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Short stature, Small for gestational age,... OMIM:194190
Thymoma
Myositis, Weight loss ORPHA:99867
Tropical Endomyocardial Fibrosis
Cachexia, Myocardial calcification ORPHA:75565
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy, Weight loss ORPHA:85450
Refractory Celiac Disease
Weight loss ORPHA:398063
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, ... ORPHA:1606
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Short neck, Hydrocephalus, Ventric... OMIM:616546
Pneumocystosis
Weight loss ORPHA:723
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Williams Syndrome
Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Spina bi... ORPHA:904
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis ORPHA:536532
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Holoprosencephaly 14
Cerebellar atrophy, Aqueductal stenosis, Hydrocephalus, Partial absence of cerebellar vermis, Sub... OMIM:619895
Multiple Myeloma
Vertebral compression fracture, Paresthesia, Weight loss ORPHA:29073
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Olivopontocerebellar hypoplasia, Hydrocephalus, Scoliosis, Ventriculomegaly ORPHA:457284
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Camptodactyly of finger, Kyphosis, Growth delay, Platyspondyly, Abnormality... ORPHA:2273
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Multiple joint contractures, Short stature, Short neck, Growth delay, Irregular ve... ORPHA:99646
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short stature, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Gaucher Disease Type 1
Growth delay, Kyphosis, Vertebral compression fracture, Delayed puberty ORPHA:77259
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Abnormality of the cervical spine, Weight... ORPHA:85408
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Ataxia, Kyphosis, Flexion contracture, K... OMIM:259050
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Oculocerebrorenal Syndrome Of Lowe
Short stature, Clonus, Kyphosis, Platyspondyly, Scoliosis, Delayed puberty, Attention deficit hyp... ORPHA:534
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Vertebral compress... OMIM:610915
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis... OMIM:309000
Osteoporosis-Pseudoglioma Syndrome
Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ve... OMIM:259770
Al Amyloidosis
Macroglossia, Weight loss ORPHA:85443
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Cystinosis, Nephropathic
Skeletal muscle atrophy, Short stature, Failure to thrive in infancy, Progressive neurologic dete... OMIM:219800
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Hydrocephalus, Muscular dystrophy, Cerebellar hypoplasia, Myoclonus, Spasti... OMIM:253280
Budd-Chiari Syndrome
Weight loss ORPHA:131
Juvenile Dermatomyositis
Calcinosis, Myositis, Weight loss ORPHA:93672
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Fanconi Anemia
Short stature, Hydrocephalus, Weight loss, Growth delay, Scoliosis, Intrauterine growth retardati... ORPHA:84
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Growth delay, D... ORPHA:2232
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Growth delay, Prominent coccy... OMIM:249420
Immunodeficiency 31C
Skeletal muscle atrophy, Short stature, Weight loss, Growth delay, Delayed puberty OMIM:614162
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Coffin-Siris Syndrome 1
Sacral dimple, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyph... OMIM:135900
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Reactive Arthritis
Cognitive impairment, Weight loss ORPHA:29207
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Disp... ORPHA:1507
Rat-Bite Fever
Back pain, Tendonitis, Weight loss ORPHA:31205
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Weight loss ORPHA:49041
Klatskin Tumor
Weight loss ORPHA:99978
Familial Pancreatic Carcinoma
Back pain, Weight loss ORPHA:1333
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Ramon Syndrome
Kyphosis, Short stature, Scoliosis, Decreased body weight OMIM:266270
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Facial palsy, Kyphosis, Hydrocephalus, Scoliosis ORPHA:2658
Pyomyositis
Myositis, Weight loss ORPHA:764
Polycythemia Vera
Weight loss ORPHA:729
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Proximal amyotr... ORPHA:99889
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Coffin-Lowry Syndrome
Short stature, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight, Ventriculomegaly OMIM:303600
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Aspartylglucosaminuria
Short stature, Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaki... OMIM:208400
Brucellosis
Small for gestational age, Chorea, Weight loss, Sacroiliac arthritis, Failure to thrive ORPHA:1304
Acute Adrenal Insufficiency
Weight loss, Failure to thrive, Delayed puberty ORPHA:95409
Cleidocranial Dysplasia 1
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
17Q11 Microdeletion Syndrome
Short attention span, Abnormal central motor function, Short stature, Rhabdomyosarcoma, Kyphosis,... ORPHA:97685
Tsh-Secreting Pituitary Adenoma
Tremor, Weight loss, Periodic hypokalemic paresis, Delayed puberty ORPHA:91347
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Difficulty walking, Scoliosis OMIM:619482
Turner Syndrome Due To Structural X Chromosome Anomalies
Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... ORPHA:99413
Mosaic Monosomy X
Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... ORPHA:99228
Monosomy X
Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... ORPHA:99226
Turner Syndrome
Short stature, Failure to thrive in infancy, Short neck, Postnatal growth retardation, Kyphosis, ... ORPHA:881
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis, Delayed puberty OMIM:619718
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... ORPHA:2911
Classic Homocystinuria
Kyphosis, Scoliosis, Hemiplegia/hemiparesis ORPHA:394
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Ankle flexion contracture... ORPHA:821
Q Fever
Weight loss ORPHA:781
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Caroli Disease
Weight loss ORPHA:53035
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Weight loss ORPHA:60025
Cdags Syndrome
Kyphosis OMIM:603116
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Wrinkly Skin Syndrome
Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Scoliosis, Intrauterine... OMIM:278250
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Castleman Disease
Weight loss ORPHA:160
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... OMIM:300106
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss ORPHA:309031
Primary Sclerosing Cholangitis
Generalized amyotrophy, Weight loss ORPHA:171
Addison Disease
Weight loss, Failure to thrive, Delayed puberty ORPHA:85138
Cerebrocostomandibular Syndrome
Kyphosis, Short stature, Intrauterine growth retardation ORPHA:1393
Acromegaly
Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia ORPHA:963
Somatomammotropinoma
Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia ORPHA:314769
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Weight loss ORPHA:652
Pancreatoblastoma
Weight loss ORPHA:677
Dermatomyositis
Inflammatory myopathy, Weight loss ORPHA:221
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Tropical Pancreatitis
Weight loss ORPHA:103918
Occipital Horn Syndrome
Growth delay, Kyphosis, Platyspondyly OMIM:304150
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Shuffling gait, Weight loss ORPHA:740
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Abnormality of the extraocular muscles, Weight loss ORPHA:79078
Malt Lymphoma
Weight loss ORPHA:52417
Ppoma
Weight loss ORPHA:97278
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Somatostatinoma
Weight loss ORPHA:97283
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Postnatal growt... OMIM:113620
Parathyroid Carcinoma
Weight loss ORPHA:143
Grfoma
Weight loss ORPHA:97261
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Glucagonoma
Weight loss ORPHA:97280
Postinfectious Vasculitis
Weight loss ORPHA:48435
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Short stature, Weight loss ORPHA:90794
Nocardiosis
Weight loss ORPHA:31204
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thoracic vertebrae... OMIM:216340
Viss Syndrome
Short stature, Kyphosis, Macroglossia, Scoliosis, Failure to thrive, Contracture of the proximal ... OMIM:619472
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Chronic Graft Versus Host Disease
Flexion contracture, Weight loss ORPHA:99921
Sarcoidosis
Facial palsy, Weight loss ORPHA:797
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Alström Syndrome
Thoracic scoliosis, Somatic sensory dysfunction, Short stature, Ataxia, Incoordination, Kyphosis,... ORPHA:64
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

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 Atxn1

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 Atxn1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Atxn10tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Atxn10tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Atxn10tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Atxn10tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Atxn10tm1b(KOMP)Wtsi PMC5827107

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
Atxn1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atxn1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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