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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Atxn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Atxn1 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Motor deterioration, ... ORPHA:98765
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Mental deterioration, Cognitive impairment, Ataxia, Upper motor neuron dysfun... ORPHA:306617
Spastic Paraplegia 88, Autosomal Dominant
Ventriculomegaly, Lower limb muscle weakness, Agenesis of cerebellar vermis, Distal sensory impai... OMIM:620106
Spinocerebellar Ataxia 48
Mental deterioration, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, ... OMIM:618093
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
X-Linked Spinocerebellar Ataxia Type 4
Memory impairment, Difficulty walking, Postural tremor, Abnormal pyramidal sign, Dementia, Progre... ORPHA:85292
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Hydrocephal... ORPHA:363717
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Mental deterioration, Ventriculomegaly, Cerebellar atrophy, Lower limb spasticity, Hypertonia, At... OMIM:613925
Juvenile Huntington Disease
Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Gait a... ORPHA:248111
Huntington Disease-Like 2
Involuntary movements, Memory impairment, Chorea, Parkinsonism, Weight loss, Gait disturbance, De... ORPHA:98934
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... ORPHA:98762
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Hand ... OMIM:614409
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Ventriculomegaly, Cerebellar atrophy, Confusion, Myoclonus, Gait ataxia, Tr... OMIM:615362
Christianson Syndrome
Ventriculomegaly, Cerebellar atrophy, Decreased muscle mass, Gait ataxia, Cachexia, Aplasia/Hypop... ORPHA:85278
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Myopathy, Cachexia, Gait disturbance, Hyperlordosis, Flexion contracture... ORPHA:157973
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dementia, Choreoathetosis OMIM:125370
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Dementia, Intention tremor ORPHA:308
Olivopontocerebellar Atrophy-Deafness Syndrome
Olivopontocerebellar atrophy, Ventriculomegaly, Hypertonia, Ataxia ORPHA:2732
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, M... OMIM:616230
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss, Progressive neurologic deterioration OMIM:612075
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Gait ataxia, Cachexia, Gait apraxia, Motor deterioration, Sh... OMIM:312750
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Flynn-Aird Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Cachexia, Ataxia, Dementia, Scoliosis, Kyphosis ORPHA:2047
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Ventriculomegaly, Failure to thrive, Upper limb hypertonia, Limb dy... ORPHA:319199
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impairment, Ataxi... ORPHA:401901
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Inability to walk, Cerebellar hypoplasia, Ataxia, Spastic gait, Spastic tetrapa... OMIM:616486
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Attention deficit hyperactivity disorder, Hydroc... OMIM:618709
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Ce... OMIM:617225
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... ORPHA:3115
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Facial myokymia, Attention deficit hyperactivity disord... OMIM:620007
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Spasticity, Cerebellar hypoplasia, Ataxia, Facial hypotonia OMIM:618383
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... ORPHA:423275
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Skeletal muscle atrophy, Cerebellar atrophy, Ataxia OMIM:613402
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Obesity, Lumbar hyperlordosis, Lower limb spasticity, Ataxia... OMIM:616756
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait... ORPHA:101075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Ataxia OMIM:613662
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy, Camptodactyly of finger, Gait ataxia, Slurred speech, Flexi... OMIM:619323
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Abnormal cerebellum morphology, Abnormal neuron morphology ORPHA:329228
Spastic Paraplegia 75, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Ventriculomegaly, Distal lower limb amyotrop... OMIM:616680
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Spasticity, Ankle flexion contracture, Proximal muscle w... OMIM:616668
Huntington Disease-Like 1
Involuntary movements, Memory impairment, Cerebellar atrophy, Ventriculomegaly, Incoordination, C... ORPHA:157941
Pelizaeus-Merzbacher Disease
Spasticity, Kyphosis, Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Short sta... ORPHA:702
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Mental deterioration, Cerebellar dentate nucleus calcification, Memory impairment, Chorea, Dysmet... OMIM:618317
Microcephaly 19, Primary, Autosomal Recessive
Failure to thrive in infancy, Ventriculomegaly, Spasticity, Decreased body weight OMIM:617800
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Sh... ORPHA:459033
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity d... OMIM:619191
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Sandhoff Disease
Failure to thrive, Progressive psychomotor deterioration, Motor deterioration, Ataxia, Kyphosis ORPHA:796
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Diffuse cerebellar atrophy, Broad-based gait, Ventriculomegaly, Retrocerebellar cyst, Progressive... ORPHA:363429
Aids Wasting Syndrome
Cachexia, Weight loss, Skeletal muscle atrophy ORPHA:90081
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Hand tremor, Gait ataxia, Short stature OMIM:617862
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Ventriculomegaly, Skeletal muscle... ORPHA:370968
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Tremor, Gait disturbance, Normal pressure hydrocephalus, Kinetic tremor OMIM:611808
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Ventriculomegaly, Failure to thrive, Inability to walk, Hypomimic face, Ataxia, Scoli... OMIM:619701
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p... OMIM:617145
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria, Progressive n... OMIM:618251
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Ventriculomegaly, Fatigable weakness of skeletal muscles, Difficu... ORPHA:206559
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... OMIM:610185
Huntington Disease-Like 2
Memory impairment, Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Dementia, Bradykinesia... OMIM:606438
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Ventriculomegaly, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Reduc... ORPHA:370980
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Ky... ORPHA:101078
Porencephaly
Ventriculomegaly, Spasticity, Hemiplegia/hemiparesis, Cerebral palsy ORPHA:2940
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Myoclonus, Limb muscle weakness, Tremor, Cachexia, Ataxia, Facial palsy ORPHA:97229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Tip-... OMIM:606612
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait... OMIM:607136
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypertonia, Spastic tetraplegia OMIM:618677
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy ORPHA:1216
Masa Syndrome
Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Lower limb spasticity, Hyperlor... OMIM:303350
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Lower limb amyotrophy, ... OMIM:617087
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Kyphosis, Finger joint contracture, Intrauterine growth retardation, Chorea, Pa... ORPHA:48431
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Skeletal muscle atrophy, Cachexia, Ataxia, Short stature ORPHA:1933
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... ORPHA:208513
Gerstmann-Straussler Disease
Spasticity, Memory impairment, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ... OMIM:137440
Caribbean Parkinsonism
Ventriculomegaly, Frontal lobe dementia, Myoclonus, Action tremor, Rigidity, Dystonia, Progressiv... ORPHA:97355
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar hypoplasia, Attention d... ORPHA:137831
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Frequent falls, Myoclonus, Gait ataxia, Action myoclonus, Scoliosis, Generalize... OMIM:616540
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Failure to thrive in infancy, Inability to walk, Intrauterine growth retardation, Hip... OMIM:616801
Mcdonough Syndrome
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Short stature, Scoliosis, Kyphosis ORPHA:2471
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Camptodactyly of finger, Hemiplegia/hemiparesis, Gait distu... ORPHA:2466
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Spastic tetraplegia, Cerebral palsy OMIM:612900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Gait disturbance, Ataxia, Progressive neurologic deterioration, Scoliosis, Ky... ORPHA:85317
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Difficulty walking, Paraplegia, Dist... ORPHA:98897
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis, Cognitive impairment ORPHA:2744
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Lower limb spasticity, Gait disturbance, Hyperlordosis, Proximal amyotrophy, Short ... OMIM:617404
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Postnatal growth retardation, Myoclonus, Short attention s... ORPHA:391417
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Ventriculomegaly, Kyphosis, Skeletal muscle atrophy, Myoclonus, Ataxia, Short stat... OMIM:230650
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Skeletal muscle atrop... ORPHA:88644
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Fatigable weakness, Myopathy, Fatigable weakness of neck muscles, Cachex... ORPHA:42
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Ataxia-Deafness-Intellectual Disability Syndrome
Ventriculomegaly, Skeletal muscle atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Scoliosis ORPHA:1188
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... ORPHA:1170
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Cerebellar atrophy, Intrauterine growth retardation, Myopathy, Dysto... OMIM:618237
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... OMIM:618124
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Cachexia ORPHA:2576
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ventriculomegaly, Failure to thrive, Inability to walk, Tremor, Cerebellar hypoplasia, Attention ... OMIM:619556
Neuronal Intranuclear Inclusion Disease
Ventriculomegaly, Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Cognitive impa... OMIM:603472
Oxoglutarate Dehydrogenase Deficiency
Ventriculomegaly, Falls, Gait ataxia, Dysmetria, Rigidity, Dystonia, Unsteady gait, Generalized a... OMIM:203740
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Huntington Disease
Mental deterioration, Involuntary movements, Decreased body mass index, Memory impairment, Diffic... ORPHA:399
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Cerebellar atrophy, Fail... OMIM:248800
Mitochondrial Complex I Deficiency, Nuclear Type 19
Ventriculomegaly, Cerebellar atrophy, Inability to walk, Myoclonus, Rigidity, Loss of ambulation,... OMIM:618241
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Di... OMIM:208920
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Ventriculomegaly, Inability to walk, Cerebellar hypoplasia, Oculomo... OMIM:618273
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Skel... ORPHA:99014
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Cerebellar atrophy, Arthrogryposis multiplex congenita, Facial diplegia, Babinski sig... OMIM:618186
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy... ORPHA:3208
Spinocerebellar Ataxia 50
Memory impairment, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclo... OMIM:620158
Intellectual Developmental Disorder, X-Linked 111
Spasticity, Ventriculomegaly, Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia OMIM:301107
Parastremmatic Dwarfism
Severe short stature, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Developmental And Epileptic Encephalopathy 97
Inability to walk, Ventriculomegaly, Tremor OMIM:619561
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ventriculomegaly, Falls, Chorea, Dystonia, Ataxia, Poor coordination, Paroxysmal dyskinesia OMIM:619150
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Developmental And Epileptic Encephalopathy 59
Inability to walk, Ventriculomegaly, Scoliosis, Ataxia OMIM:617904
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida... OMIM:610743
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Ventriculomegaly, Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Ab... ORPHA:500180
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Ventriculomegaly, Inability to walk, Chorea, M... OMIM:614254
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Paresthesia, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormal... ORPHA:298
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Polymicrogyria, Bilateral Temporooccipital
Delirium, Ventriculomegaly OMIM:612691
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spastic Paraplegia 47, Autosomal Recessive
Spastic paraplegia, Spasticity, Ventriculomegaly, Inability to walk, Babinski sign, Hypertonia, S... OMIM:614066
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dy... OMIM:617435
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Elbow flexion contracture, Intrauterine growth retardation, EMG: myopathic abnorma... ORPHA:371364
X-Linked Creatine Transporter Deficiency
Chorea, Cachexia, Hypertonia, Ataxia, Short stature, Dystonia, Athetosis ORPHA:52503
Bowen-Conradi Syndrome
Ventriculomegaly, Camptodactyly of finger, Severe postnatal growth retardation, Severe intrauteri... ORPHA:1270
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Cerebellar atrophy, Spastic tetraplegia, Hypertonia OMIM:618730
Spastic Ataxia 3, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Loss of ambula... OMIM:611390
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Dementia, Ventriculomegaly, Broad-based gait, Ataxia OMIM:206570
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Ventriculomegaly, Inability to walk, Kyphoscoliosis, Joint contra... OMIM:617977
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Multiple joint contra... OMIM:128100
Mehmo Syndrome
Spasticity, Ventriculomegaly, Difficulty walking, Inability to walk, Obesity, Gait ataxia, Babins... OMIM:300148
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Decreased body weight, Short stature, Kyphosis, Waddling gait OMIM:618392
Lissencephaly 1
Cerebellar hypoplasia, Ventriculomegaly, Spastic tetraparesis OMIM:607432
Neurodevelopmental Disorder With Dystonia And Seizures
Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation, Chorea, Cerebellar hypopla... OMIM:619922
Infantile Krabbe Disease
Hyperesthesia, Mental deterioration, Spasticity, Failure to thrive, Shoulder girdle muscle weakne... ORPHA:206436
Spinocerebellar Ataxia Type 17
Blepharospasm, Mental deterioration, Involuntary movements, Spasticity, Cerebellar atrophy, Chore... ORPHA:98759
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at... ORPHA:101
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal... ORPHA:98773
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Progressive spastic paraplegia, Difficulty walking, Obe... ORPHA:464282
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Progressive cerebel... OMIM:183090
Kohlschutter-Tonz Syndrome
Ventriculomegaly, Spasticity, Cerebellar hypoplasia, Ataxia, Dementia OMIM:226750
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Ventriculomegaly, Hypoplasia of the pons, Dysmetria, Ankle clonus, Cerebellar h... OMIM:606854
Microcephaly 5, Primary, Autosomal Recessive
Short stature, Ventriculomegaly, Attention deficit hyperactivity disorder, Cerebellar hypoplasia OMIM:608716
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Spastic tetraplegia, Ataxia OMIM:611603
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Short stature, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:3207
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Ventriculomegaly, Hydrocephalus OMIM:604213
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Ventriculomegaly, Slender build, Myoclonus, Limb tremor, Hypertonia, Short stature OMIM:300699
Spinocerebellar Ataxia 32
Cerebellar atrophy, Cognitive impairment, Ataxia OMIM:613909
Microcephaly 17, Primary, Autosomal Recessive
Spasticity, Ventriculomegaly, Failure to thrive, Cerebellar hypoplasia, Hypertonia, Short stature OMIM:617090
Cdkl5-Deficiency Disorder
Impaired pain sensation, Difficulty walking, Gait disturbance, Scoliosis, Growth delay, Kyphosis ORPHA:505652
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Incoordination, Intrauterine... OMIM:616034
Atypical Rett Syndrome
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... ORPHA:3095
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Attention defici... ORPHA:216866
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Beaking... ORPHA:40
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Microlissencephaly
Ventriculomegaly, Cerebellar atrophy, Hypertonia ORPHA:1083
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Ventriculomegaly, Chorea, Hyperkinetic mov... OMIM:617493
Narp Syndrome
Ventriculomegaly, Dementia, Progressive gait ataxia, Babinski sign, Myoclonic spasms, Ataxia, Sho... ORPHA:644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Muscular dystrophy, Ventriculomegaly, Inability to walk, Cerebellar... OMIM:613156
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Abnormal cerebellum morphology, Tremo... OMIM:300957
Leukoencephalopathy, Cystic, Without Megalencephaly
Ventriculomegaly, Spasticity, Ataxia, Dystonia, Athetosis OMIM:612951
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Arthrogryposis multiplex congenita OMIM:619501
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Obesity, Tremor, Cachexia, Short neck, Short stature, ... ORPHA:85293
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Kyphosis, Small for gestational age ORPHA:85288
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171436
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Gai... ORPHA:101070
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Dementia, Extrapyramidal muscular rigidity, Speech ap... ORPHA:99750
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Dementia, Intrauterine growth retardation, Positive Romberg sign, Myoclonus, ... OMIM:301310
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ... OMIM:616471
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Hypertonia ORPHA:1389
Pulmonary Blastoma
Weight loss ORPHA:64741
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Cerebellar atrophy, Obesity, Oculomotor apraxia, Abnormal pyramidal... OMIM:616267
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Memory impairment... ORPHA:98755
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Ventriculomegaly, Failure to thrive, Head titubation, Progressive ... ORPHA:88639
Renpenning Syndrome
Severe short stature, Cachexia, Growth delay, Skeletal muscle atrophy ORPHA:3242
Congenital Disorder Of Glycosylation, Type Iih
Ventriculomegaly, Cerebellar atrophy, Failure to thrive in infancy, Ataxia, Scoliosis OMIM:611182
Isaacs Syndrome
Weight loss, Calf muscle hypertrophy, Distal sensory impairment, Fasciculations ORPHA:84142
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance, Camptodactyly of finger ORPHA:2774
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Failure to thrive, Progressive psychomotor deterioration, Ataxia, Short stature... ORPHA:251009
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Confusion, Cachexia, Hydrocephalus, Ataxia, Short stature ORPHA:220295
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn... ORPHA:75840
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Ventriculomegaly, Intrauterine growth retardation, Arthrogryposis multiple... OMIM:616570
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... OMIM:607459
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Cerebellar vermis atrophy, Distal lower limb amyotrophy, Gait ataxia, Tremor, D... OMIM:300354
Catel-Manzke Syndrome
Ventriculomegaly, Failure to thrive, Camptodactyly of finger, Short stature, Scoliosis ORPHA:1388
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walki... OMIM:607155
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Intellectual Developmental Disorder, Autosomal Recessive 46
Ventriculomegaly, Large for gestational age, Ataxia, Short stature, Growth delay OMIM:616116
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Ventriculomegaly, Cerebellar ... OMIM:616531
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Muscle fiber spli... OMIM:181405
Jaberi-Elahi Syndrome
Broad-based gait, Kyphosis, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Gait... OMIM:617988
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Joint contracture of the hand, Kyphosis, Congenital contracture, Cerebral palsy, Arth... ORPHA:352490
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Camptodactyly, Kyphosis OMIM:618453
Autosomal Recessive Spastic Paraplegia Type 35
Spastic paraplegia, Mental deterioration, Kyphosis, Cerebellar atrophy, Generalized dystonia, Dif... ORPHA:171629
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Upper limb hypertonia, Paroxysmal dys... ORPHA:2524
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Intrauterine growth retardation, D... OMIM:617710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Spasticity, Mental deterioration, Kyphosis, Ventriculome... OMIM:618476
Optic Atrophy 11
Increased variability in muscle fiber diameter, Ventriculomegaly, Facial diplegia, Dysmetria, Hyp... OMIM:617302
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Small... OMIM:618484
Ataxia With Vitamin E Deficiency
Short term memory impairment, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Impaired prop... OMIM:277460
Bonnemann-Meinecke-Reich Syndrome
Short stature, Ventriculomegaly, Spasticity ORPHA:1261
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Dementia, Slender build, Ragged-red muscle fibers, Distal sensory impairment, ... OMIM:603041
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Intrauterine growth retardati... OMIM:255200
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Dementia ORPHA:178509
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Memory impairment, Inab... ORPHA:845
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum ORPHA:1568
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Progressive neurologic deterioration, Ventriculomegaly, Hypertonia OMIM:611722
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Short neck ORPHA:1438
Microhydranencephaly
Ventriculomegaly, Skeletal muscle atrophy, Multiple joint contractures, Cerebellar hypoplasia, Sh... OMIM:605013
Cockayne Syndrome
Mental deterioration, Spasticity, Difficulty walking, Postnatal growth retardation, Action tremor... ORPHA:191
Tetrasomy 12P
Short stature, Cachexia, Short neck ORPHA:884
Schwartz-Jampel Syndrome
Myopathy, Decreased body weight, Hip contracture, Cachexia, Short neck, Spinal rigidity, Blepharo... ORPHA:800
Whipple Disease
Myoclonus, Myositis, Cachexia, Abnormal pyramidal sign, Hydrocephalus, Ataxia ORPHA:3452
Perry Syndrome
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Fr... OMIM:168605
Baralle-Macken Syndrome
Spasticity, Inability to walk, Obesity, Dystonia, Kyphosis OMIM:619255
Sialidosis Type 2
Skeletal muscle atrophy, Tremor, Ataxia, Short stature, Flexion contracture, Kyphosis ORPHA:87876
Leukoencephalopathy With Vanishing White Matter 4
Ventriculomegaly, Spasticity, Unsteady gait OMIM:620314
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Ventriculomegaly, Cerebellar atrophy, Limb hypertonia, Unilateral facial palsy, Torticollis, Atax... OMIM:618547
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Failure to thrive, Speech apraxia, Attention defi... OMIM:609757
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ventriculomegaly, Failure to thrive, Tetraparesis, Abnormal cerebellum morphology, Spastic diplegia ORPHA:255182
Aredyld Syndrome
Short stature, Intrauterine growth retardation, Cachexia, Scoliosis ORPHA:1133
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate... OMIM:609541
Microcephaly-Cardiomyopathy Syndrome
Short stature, Ventriculomegaly, Intrauterine growth retardation, Cognitive impairment ORPHA:2515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Ventriculomegaly, Muscular dystrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar cyst OMIM:613151
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intra... ORPHA:813
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Ventriculomegaly, Failure to thrive, Speech apraxia, Obesity, Cong... ORPHA:261197
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Ventriculomegaly, Failure to thrive, Progressive psychomot... OMIM:230600
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Skeletal muscle atrophy, Failure to thrive, Left ventricular hypertrophy, Abnor... OMIM:618228
Spinocerebellar Ataxia 1
Spasticity, Cognitive impairment, Progressive cerebellar ataxia, Impaired vibratory sensation, Ch... OMIM:164400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Cerebellar cyst, Intrauterine ... ORPHA:79243
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Spasticity, Ventriculomegaly, Failure to thrive, Cerebral palsy, Inability to walk, Intrauterine ... ORPHA:505237
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Attention deficit hyperac... ORPHA:467166
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Elbow fle... OMIM:214150
Developmental And Epileptic Encephalopathy 70
Ventriculomegaly, Spastic tetraparesis, Scoliosis, Flexion contracture OMIM:618298
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Episodic ataxia, Myoclonus, Tremor, Dystonia, Small for gestational age, Choreo... OMIM:312170
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Ventriculomegaly, Facial diplegia, Dysmetria, Babinski sign, Scissor gait, Attention deficit hype... OMIM:619121
Pontocerebellar Hypoplasia, Type 16
Ventriculomegaly, Skeletal muscle atrophy, Hypoplasia of the pons, Abnormality of extrapyramidal ... OMIM:619527
Gm1 Gangliosidosis
Spasticity, Weight loss, Cognitive impairment, Ataxia, Unsteady gait, Dystonia, Platyspondyly, Ab... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Ventriculomegaly, Muscular dystrophy, Hydrocephalus OMIM:614830
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Delayed puberty, Sho... OMIM:301900
Xfe Progeroid Syndrome
Severe short stature, Ventriculomegaly, Failure to thrive, Cachexia, Poor coordination, Scoliosis OMIM:610965
Pontocerebellar Hypoplasia, Type 9
Spasticity, Ventriculomegaly, Hypoplasia of the pons, Cerebellar hypoplasia, Clonus, Hypertonia, ... OMIM:615809
Congenital Muscular Dystrophy With Cerebellar Involvement
Calf muscle pseudohypertrophy, Muscular dystrophy, Ventriculomegaly, Hypoplasia of the pons, Dila... ORPHA:370959
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Obesity, Scoliosis, Kyphosis ORPHA:276630
Trisomy 5P
Short stature, Ventriculomegaly, Obesity, Scoliosis ORPHA:1742
Mitochondrial Complex I Deficiency, Nuclear Type 33
Spasticity, Ventriculomegaly, Intrauterine growth retardation, Loss of ambulation, Cerebellar hyp... OMIM:618253
Superficial Siderosis
Lower limb muscle weakness, Abnormal pyramidal sign, Cognitive impairment, Ataxia, Abnormal cereb... ORPHA:247245
Spastic Paraplegia 50, Autosomal Recessive
Ventriculomegaly, Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Ataxia, Spa... OMIM:612936
Pyruvate Dehydrogenase Deficiency
Spasticity, Ventriculomegaly, Cerebral palsy, Intrauterine growth retardation, Tremor, Abnormal p... ORPHA:765
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Cerebellar vermis hypoplasia, Spasticity, Broad-based gait, Ventriculomegaly, Difficulty walking,... OMIM:617807
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Flexion contracture ORPHA:1979
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Scoliosis, Kyphosis OMIM:300434
Cog8-Cdg
Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy, Failure to thrive, Myoclonus, Ataxia ORPHA:95428
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Ventriculomegaly, Chorea, Myoclonus, Lower limb spasticity, Unstea... ORPHA:485350
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Spasticity, Cerebellar atrophy, Congenital contracture, Arthrogryposis mul... OMIM:618397
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Failu... OMIM:254090
Nasu-Hakola Disease
Spasticity, Memory impairment, Ventriculomegaly, Frontal lobe dementia, Chorea, Oculomotor apraxi... ORPHA:2770
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Ventriculomegaly, Camptodactyly of finger, Intrauterine growth retardation, M... ORPHA:272
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Arthrogryposis multiplex congenita, Cerebral palsy, Intrauterine growth retardation, Hy... OMIM:615834
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Myoclonus, Tremor, Gait disturban... ORPHA:812
Spastic Paraplegia 51, Autosomal Recessive
Spastic paraplegia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Decreased muscle mass, Inab... OMIM:613744
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Gait ataxia, Positive Romber... ORPHA:88628
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Growth delay, Dystonia, Abnormal pyramidal sign, Hypertonia, Spastic tetrapares... OMIM:308350
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Myoclonus, Opisthotonus, Hyp... OMIM:615851
Idiopathic Achalasia
Weight loss ORPHA:930
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Progressive spastic quadriplegia, Dyston... ORPHA:431361
Pontocerebellar Hypoplasia, Type 2B
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Chorea, Cerebella... OMIM:612389
Gillespie Syndrome
Ventriculomegaly, Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Slurred speech OMIM:206700
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Spasticity, Cerebellar atrophy, Intrauterine growth retardation, Hydrocephalus,... OMIM:610333
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
4Q21 Microdeletion Syndrome
Ventriculomegaly, Growth delay, Intrauterine growth retardation, Tremor, Cerebellar hypoplasia, S... ORPHA:238750
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Gait disturbance, Kyphosis ORPHA:1875
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Abnormal cerebellum morphology, H... OMIM:211530
Chronic Hiccup
Weight loss, Abnormality of the diaphragm ORPHA:396
Seckel Syndrome
Intrauterine growth retardation, Cachexia, Cognitive impairment, Short stature, Scoliosis ORPHA:808
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Skeletal muscle atrophy, Arthrogryposis multiplex... OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cy... OMIM:613153
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Memory impairment, Ventriculomegaly, Inability to walk, Hemi... ORPHA:1929
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Parkinsonism,... ORPHA:411602
Oculogastrointestinal Muscular Dystrophy
Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:1876
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Cognitive impairment, Ataxia, Dementia, Spastic tetraplegi... OMIM:616640
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Myopathy, Delayed puberty, Scoliosis, Kyphosis ORPHA:2598
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Ventriculomegaly, Spasticity, Decreased body weight, Scoliosis OMIM:300958
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Cognitive impair... ORPHA:858
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Cerebellar atrophy, Postnatal growth ... OMIM:300966
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis, Failure to thrive, Myopathy OMIM:618234
Muscular Dystrophy, Congenital, With Or Without Seizures
Mental deterioration, Ventriculomegaly, Loss of ambulation, Hypoglycosylation of alpha-dystroglyc... OMIM:620166
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormality of the vertebral column, Slender build, Cachexia, Delayed pu... ORPHA:1328
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Ventriculomegaly, Inability to walk, Hip contracture, Weakness of facial musculature,... OMIM:301041
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis OMIM:618393
Srd5A3-Cdg
Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Abnormal cerebellar vermis morphology... ORPHA:324737
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventriculomegaly, Failure to thrive, Inability to walk, Intrauterine growth retardation, Decrease... OMIM:617452
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Multiple Sulfatase Deficiency
Spasticity, Ventriculomegaly, Rapid neurologic deterioration, Cerebellar atrophy, Hypoplastic ver... OMIM:272200
Houge-Janssens Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Gait ataxia, Congenital muscular torticollis, ... OMIM:616355
Trisomy 18
Chiari malformation, Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphra... ORPHA:3380
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ventriculomegaly, Chorea, Limb dystonia, Communicating hydrocephalus, Tr... ORPHA:25
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Congenital-Onset Steinert Myotonic Dystrophy
Ventriculomegaly, Speech apraxia, Obesity, Short attention span, Decreased body weight, Facial hy... ORPHA:589821
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Gait disturbance, Hydrocephalus, Scoliosis, Kyphosis ORPHA:2181
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Scoliosis ORPHA:2058
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar sco... OMIM:313420
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Akinesia, Paresthesia, Cogwhe... ORPHA:97349
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Ventriculomegaly, Spastic paraparesis, Failure to thrive, Lower limb muscle... ORPHA:395
Cornelia De Lange Syndrome 2
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Short neck, Cogn... OMIM:300590
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Generalized amyotrophy, Cerebellar atrophy, Ragged-red muscle fibers, Proximal a... OMIM:615084
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... ORPHA:572798
Majeed Syndrome
Cachexia, Weight loss, Flexion contracture, Failure to thrive ORPHA:77297
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Ventriculomegaly, Intrauterine growth retardation, Limb ataxia, Truncal ataxia OMIM:619051
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Short attention span, Tremor, Decreased body weight, Attention deficit hyperact... OMIM:618342
Metatropic Dysplasia
Severe short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camp... ORPHA:2635
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Broad-based gait, Ventriculomegaly, Limb ataxia, Para... ORPHA:2072
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Cerebellar atrophy, Inability to walk, Obesity, Cerebellar hypoplasia, Thoracolumbar ... OMIM:618443
Developmental And Epileptic Encephalopathy 64
Ventriculomegaly, Inability to walk, Chorea, Paroxysmal dystonia, Hemiparesis, Cerebellar hypopla... OMIM:618004
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ventriculomegaly, Cerebellar atrophy, Inability to walk, Gait ataxia, Short attention span, Opist... OMIM:619580
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Muscular dystrophy, Hydrocephalus, Ventriculomegaly ORPHA:324416
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Spasticity, Retrocerebellar cyst, Slender build... ORPHA:364028
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Skeletal muscle atrophy, Inability to walk, Limb muscle weakness, Facial dipleg... OMIM:218000
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Intrauterine growth retardation, Decreased body weight, Cerebellar hypoplasia, ... ORPHA:255138
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Gait ataxia, Hydrocephalus, Aqueducta... OMIM:304340
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Ventriculomegaly, Camptodactyly of finger, Intrauterine growth retardation, Hypertonia, Short sta... ORPHA:1495
Wolman Disease
Cachexia, Growth delay ORPHA:75233
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Ventriculomegaly, Scoliosis, Kyphosis, Cerebellar atrophy OMIM:619797
Spondylometaphyseal Dysplasia, Kozlowski Type
Severe short stature, Platyspondyly, Hypoplasia of the odontoid process, Scoliosis, Vertebral wed... ORPHA:93314
Joubert Syndrome 31
Truncal ataxia, Ventriculomegaly, Oculomotor apraxia OMIM:617761
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Cachexia, Growth delay, Failure to thrive ORPHA:217346
48,Xxyy Syndrome
Ventriculomegaly, Obesity, Tremor, Attention deficit hyperactivity disorder, Ataxia, Scoliosis ORPHA:10
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Generalized amyotrophy, Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, ... ORPHA:352447
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Ventriculomegaly, Spasticity, Scoliosis, Broad-based gait ORPHA:457260
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Crisponi Syndrome
Camptodactyly of finger, Cognitive impairment, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Failure to thrive, Attention deficit hyperactivity dis... ORPHA:500055
Lipoyltransferase 1 Deficiency
Ventriculomegaly, Cerebellar atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor f... OMIM:616299
Heart Defects-Limb Shortening Syndrome
Kyphosis, Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Abnormal form of ... ORPHA:1354
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Hypoplasia of the... OMIM:614969
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Hall-Riggs Syndrome
Platyspondyly, Failure to thrive, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular... OMIM:234250
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Short stature, Scoliosis, Kyphosis ORPHA:1969
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Failure to thrive in infancy, Inability to walk, Obesity, Cam... OMIM:615547
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Obesity, Hyperlordosis, Short stature, Kyphosis ORPHA:3085
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the pons, Intrauterine growth re... OMIM:619909
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Spasticity, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hydro... OMIM:304100
3-Hydroxyisobutyric Aciduria
Ventriculomegaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum ORPHA:939
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ventriculomegaly, Disproportionate short-limb short stature, Cerebellar vermis ... OMIM:616541
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Scoliosis, Congenital foot contractures ORPHA:3454
Bilateral Polymicrogyria
Mental deterioration, Ventriculomegaly, Cerebellar atrophy, Pseudobulbar paralysis, Spastic hemip... ORPHA:268940
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Congenital foot contractures, ... OMIM:314580
Sjögren-Larsson Syndrome
Spasticity, Abnormal pyramidal sign, Short stature, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ventriculomegaly, Type 2 muscle fiber predominance, Cerebellar atrophy, Failure to thrive, Skelet... OMIM:615471
Metatropic Dysplasia
Severe short stature, Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Dispropor... OMIM:156530
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Mitochondrial Complex I Deficiency, Nuclear Type 37
Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Skeletal muscle atrophy, Opisthotonus, T... OMIM:619272
Winchester Syndrome
Kyphosis OMIM:277950
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Failure to thrive, Cerebral palsy, Intrauterine growth retardation, Distal arth... OMIM:619833
Dpm1-Cdg
Spasticity, Muscular dystrophy, Cerebellar atrophy, Failure to thrive, Ventriculomegaly, Pontocer... ORPHA:79322
Houge-Janssens Syndrome 2
Ventriculomegaly, Inability to walk, Gait ataxia, Hydrocephalus, Facial hypotonia, Scoliosis OMIM:616362
Fatal Familial Insomnia
Dementia, Weight loss, Myoclonus, Ataxia OMIM:600072
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Joint contracture of the 5th finger, Cognitive impairment, Short stature... ORPHA:1883
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Skeletal muscle hypertrophy, Difficulty walking, Kyphoscoliosis, C... OMIM:300280
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Ventriculomegaly, Difficulty walking, Slender build, Inability to walk, Facial hypotonia OMIM:611087
Developmental Malformations-Deafness-Dystonia Syndrome
Mental deterioration, Generalized dystonia, Short stature, Macroglossia, Scoliosis, Kyphosis ORPHA:79107
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Ventriculomegaly, Spasticity, Failure to thrive OMIM:615286
Lissencephaly 8
Ventriculomegaly, Skeletal muscle atrophy, Appendicular spasticity, Cerebellar hypoplasia, Retroc... OMIM:617255
Galloway-Mowat Syndrome 5
Ventriculomegaly, Spasticity, Ataxia OMIM:617731
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Failure to thrive, Contractures of the large joints, Rigidity, Abnormality of e... OMIM:617527
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cerebellar vermis hypoplasia, Ventriculomegaly, Inability to walk, Gait ataxia, Attention deficit... OMIM:619383
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Cognitive impairment, Hydrocephalus, Short stature, Kyphosis ORPHA:93274
Primary Myelofibrosis
Cachexia ORPHA:824
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Platyspondyly, Kyphosis ORPHA:2786
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Spasticity, Ventriculomegaly, Cerebellar atrophy, Skeletal muscle atrophy... OMIM:301072
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Hypertonia, Congenital finger flexion... OMIM:108145
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Ventriculomegaly, Cerebellar atrophy, Arthrogryposis multiplex congenita, ... OMIM:617193
Alexander Disease
Spasticity, Failure to thrive, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonus, Tetra... ORPHA:58
Brain Small Vessel Disease 2
Hemiplegia, Ventriculomegaly, Growth delay, Spastic tetraplegia OMIM:614483
Linear Verrucous Nevus Syndrome
Mental deterioration, Ventriculomegaly, Scoliosis, Dandy-Walker malformation ORPHA:2611
Hoyeraal-Hreidarsson Syndrome
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Cerebellar hypoplasia, Hype... ORPHA:3322
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Abnormal form of the vertebral bodies, Short neck, Cognitive impairment, Short statur... ORPHA:3098
Snijders Blok-Campeau Syndrome
Broad-based gait, Ventriculomegaly, Speech apraxia, Attention deficit hyperactivity disorder, Uns... OMIM:618205
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy, Cachexia, Short stature, Scoliosis ORPHA:109
Galactose Epimerase Deficiency
Weight loss, Growth delay ORPHA:79238
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis OMIM:618658
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Ventriculomegaly, Obesity, Progressive spastic paraplegia ORPHA:521390
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Attention deficit hyperactivity disorder, Kyphosis OMIM:615433
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Ventriculomegaly, Intrauterine growth retardation, Akinesia, Cereb... OMIM:225790
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Short stature, Ventriculomegaly, Scoliosis OMIM:611555
Developmental And Epileptic Encephalopathy 65
Ventriculomegaly, Spasticity, Cerebellar atrophy OMIM:618008
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malform... OMIM:617967
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Ventriculomegaly, Hypoplasia of the pons, Myoclonus, Appendicular spasticity, Cerebellar hypoplas... OMIM:617669
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Intrauterine growt... OMIM:619229
Cockayne Syndrome Type 2
Difficulty walking, Intrauterine growth retardation, Lower limb spasticity, Gait disturbance, Lim... ORPHA:90322
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Spasticity, Lateral ventricle dilatation OMIM:600348
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Failure to thrive, Hypop... OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Ventriculomegaly, Failure to thrive, Contractures of the large joints, Abnormality of extrapyrami... ORPHA:521426
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Cognitive impa... ORPHA:582
Nijmegen Breakage Syndrome
Mental deterioration, Skeletal muscle atrophy, Cachexia, Attention deficit hyperactivity disorder... ORPHA:647
Emanuel Syndrome
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic he... OMIM:609029
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Vertebral segmentation defect, Hypertonia, Scoliosis, Kyphosis ORPHA:2617
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
De Sanctis-Cacchione Syndrome
Severe short stature, Mental deterioration, Spasticity, Ventriculomegaly, Olivopontocerebellar at... OMIM:278800
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Kyphosis, Failure to thrive, Cerebellar atrophy, Olivopontocerebell... OMIM:212065
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Ventriculomegaly, Camptodactyly of finger, Intrauterine growth retardation, Short neck, Cognitive... ORPHA:2083
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Ventriculomegaly, Spasticity, Scoliosis OMIM:619059
Warburg Micro Syndrome 3
Ventriculomegaly, Decreased muscle mass, Inability to walk, Postnatal growth retardation, Ankle c... OMIM:614222
Smith-Magenis Syndrome
Ventriculomegaly, Impaired pain sensation, Abnormal form of the vertebral bodies, Failure to thri... ORPHA:819
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss, Fatigable weakness ORPHA:99868
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Ventriculomegaly, Cerebellar atrophy, Inability to walk, Chorea, Ataxia, D... OMIM:617804
2P15P16.1 Microdeletion Syndrome
Ventriculomegaly, Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Ce... ORPHA:261349
Kleefstra Syndrome 2
Scoliosis, Growth delay, Kyphosis OMIM:617768
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ... OMIM:130060
Marden-Walker Syndrome
Inferior cerebellar vermis hypoplasia, Joint contracture of the hand, Congenital contracture, Dec... OMIM:248700
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Disproportionate short-limb short stature, Intrauterine growth r... ORPHA:2655
Choreoacanthocytosis
Mental deterioration, Resting tremor, Lateral ventricle dilatation, Muscle fiber atrophy, Limb dy... ORPHA:2388
Eosinophilic Fasciitis
Myositis, Muscular edema, Paresthesia, Weight loss ORPHA:3165
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Rahman Syndrome
Camptodactyly, Ventriculomegaly, Hypertonia, Kyphoscoliosis OMIM:617537
Congenital Disorder Of Glycosylation, Type If
Ventriculomegaly, Failure to thrive, Hypertonia, Ataxia, Flexion contracture OMIM:609180
Classic Hodgkin Lymphoma
Weight loss, Ataxia ORPHA:391
Wilson Disease
Proximal muscle weakness in lower limbs, Failure to thrive, Difficulty walking, Increased body we... ORPHA:905
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Hypoplasia of the pons, Intention tremor, Dysmetria, Knee flexion contracture... OMIM:619708
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ventriculomegaly, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia OMIM:617186
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Dispropo... OMIM:607326
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Short neck, Disproportionate short-trunk short... OMIM:253000
Familial Colorectal Cancer Type X
Memory impairment, Paresthesia, Hemiplegia/hemiparesis, Attention deficit hyperactivity disorder,... ORPHA:440437
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventriculomegaly, Butterfly vertebrae, Attention deficit hyperactivity disorder, Hyperlordosis, S... OMIM:618870
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Ventriculomegaly, Cervical spinal canal stenosis, Chiari type I malformation,... OMIM:620224
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Ventriculomegaly, Thoracic kyphosis ORPHA:2172
Chromosome 2P16.1-P15 Deletion Syndrome
Spasticity, Joint contracture of the hand, Ventriculomegaly, Hypoplasia of the pons, Postnatal gr... OMIM:612513
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Desbuquois Dysplasia 1
Severe short stature, Platyspondyly, Disproportionate short-limb short stature, Intrauterine grow... OMIM:251450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Ventriculomegaly, Congenital ... OMIM:613150
Mucopolysaccharidosis Type 6
Failure to thrive, Short neck, Disproportionate short-trunk short stature, Cognitive impairment, ... ORPHA:583
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss, Cognitive impairment, Psychomotor deterioration ORPHA:275761
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal vertebral morphology, Ventriculomegaly, Cerebellar hypoplasia, Truncal obesity, Abnormal... ORPHA:3224
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventriculomegaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the cerebellum, Dispropo... ORPHA:2772
Zimmermann-Laband Syndrome 2
Short stature, Macroglossia, Short neck, Kyphosis OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Scoliosis, Kyphosis OMIM:300676
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Ventriculomegaly, Hypoplasia of the pons, Failure to thrive, Short attention ... ORPHA:88618
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Tongue fasciculations, Flexion contracture, Ventriculomegaly OMIM:619851
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Scoliosis, Kyphosis ORPHA:1858
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Postnatal growth retardation, Obesity, Congenital diaphragmatic hern... ORPHA:94065
Lissencephaly 6 With Microcephaly
Ventriculomegaly, Spasticity, Limb hypertonia, Cerebellar atrophy OMIM:616212
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventriculomegaly, Obesity, Oculomotor apraxia, Hydrocephalus, Short... OMIM:615630
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation OMIM:617622
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Spasticity, Ventriculomegaly, Cerebellar atrophy, Multiple joint contractures, Growth delay, Orom... ORPHA:466934
Brain Malformations With Or Without Urinary Tract Defects
Chiari type I malformation, Ventriculomegaly, Failure to thrive, Cognitive impairment OMIM:613735
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Postnatal growth retardation, Intrauterine growth... ORPHA:494344
Ogden Syndrome
Shuffling gait, Ventriculomegaly, Postnatal growth retardation, Hypertonia, Torticollis, Scoliosis ORPHA:276432
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Ventriculomegaly, Hypoplasia of the pons, Myoclonus, Vocal cord paralysis, Dystonia, ... ORPHA:500144
19P13.12 Microdeletion Syndrome
Ventriculomegaly, Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the cerebellar vermis... ORPHA:254346
Alg8-Cdg