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Gene: Hgs MGI:104681

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Gene Summary

Name:
HGF-regulated tyrosine kinase substrate
Synonyms:
tn,  Hrs

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Hgstm1a(EUCOMM)Wtsi HET Early adult 2.61×10-05
preweaning lethality, complete penetrance Hgstm1b(EUCOMM)Wtsi HOM   Early adult 0.000238

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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 Hgs 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... OMIM:617013
Adult Krabbe Disease
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... ORPHA:206448
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Hypotonia, Spastici... ORPHA:363717
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Cerebellar vermis hypoplasia, Axial hypotonia, Clonus, Dystonia, Chorea, Babi... OMIM:612389
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Dystonia, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Ch... OMIM:614254
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Congenital c... OMIM:277470
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Hypotonia, Opisthotonus, Cervical myelopat... OMIM:207950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large p... OMIM:208920
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Short stature, Flexion contracture, Optic atrophy, Spastic tetraplegia, Cereb... OMIM:615851
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm... OMIM:618093
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Spinocerebellar Ataxia 17
Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-base... OMIM:607136
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Pontocerebellar Hypoplasia, Type 2D
Cerebellar atrophy, Appendicular spasticity, Limb joint contracture, Clonus, Chorea, Spastic tetr... OMIM:613811
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Spastic Paraplegia 7, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Upper limb muscle weakne... OMIM:607259
Adenylosuccinase Deficiency
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Inability to wal... OMIM:103050
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Generalized hypotonia, Abnor... ORPHA:98755
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Short stature, Hypotonia, Dysphagia, Gait ataxia, Hand trem... OMIM:617862
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weigh... ORPHA:248111
Gerstmann-Straussler-Scheinker Syndrome
Lower limb muscle weakness, Dysesthesia, Abnormal cerebellum morphology, Abnormal pyramidal tract... ORPHA:356
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet... OMIM:616981
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Optic... OMIM:614969
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... ORPHA:171622
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Abnormal pyramidal sign, Spastic gait, Spastic tetraparesis OMIM:619052
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropri... ORPHA:85278
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opi... OMIM:616672
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... OMIM:604484
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Paralysis, Hypotonia, Cer... OMIM:616286
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Cerebral atrophy, Dysphagia, Athetos... OMIM:617493
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Dystonia 16
Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Retr... OMIM:612067
Parkinson Disease 22, Autosomal Dominant
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:616710
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Anorexia, Tremor, Opisthotonu... ORPHA:79139
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... ORPHA:157941
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... OMIM:615528
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Opisthoto... ORPHA:13
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyram... ORPHA:216873
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Inability to walk,... OMIM:619580
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykinesia, Apr... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, C... OMIM:619922
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Pontocerebellar Hypoplasia, Type 2C
Chorea, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypoplasia, Dystonia OMIM:612390
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Apraxia, Weakness due to upper motor neuron dysfunction, ... ORPHA:275872
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... ORPHA:98759
Dystonia 12
Tremor, Torticollis, Bradykinesia, Parkinsonism OMIM:128235
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn... OMIM:614436
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Dystonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal p... OMIM:607483
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Hypotonia, Cerebral atrophy... OMIM:619272
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Short stature... ORPHA:251347
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Flexion contracture, Hypotonia, Cerebral atrophy,... OMIM:616271
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... ORPHA:98934
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia... OMIM:618501
Dystonia 31
Abnormal posturing, Parkinsonism OMIM:619565
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:100989
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... ORPHA:171863
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Generalized dystonia, Inability to... OMIM:619653
Riboflavin Transporter Deficiency
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggressive behavior, ... ORPHA:97229
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100999
Neurodevelopmental Disorder With Spasticity And Poor Growth
Axial hypotonia, Ataxia, Clonus, Short stature, Generalized dystonia, Achilles tendon contracture... OMIM:618076
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... OMIM:604168
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... OMIM:128100
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... ORPHA:399
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Dystonia, Tremor, Kyphosis, Unsteady gait, ... OMIM:617435
Gordon Holmes Syndrome
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy OMIM:212840
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth d... OMIM:619738
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia... OMIM:617225
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Wei... ORPHA:216866
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... ORPHA:276244
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Short stature, Babinski sign, S... OMIM:619847
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Peroneal muscle atrophy, Degeneration of the lateral corticospinal tracts,... ORPHA:171617
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Dystonia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappro... OMIM:619150
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Axonal loss, Gliosis, Dysphagia OMIM:300857
Mepan Syndrome
Cerebellar atrophy, Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ... ORPHA:508093
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Peripheral axonal dege... OMIM:607706
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... OMIM:603218
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Spastic Paraplegia 3, Autosomal Dominant
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... OMIM:182600
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoath... ORPHA:445038
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Spastic Paraplegia 8, Autosomal Dominant
Low back pain, Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Babinski ... OMIM:603563
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... OMIM:604360
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Clonus, Short neck, Tremor, Chorea, Optic at... OMIM:615673
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... OMIM:604320
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Kyphosis, Cho... ORPHA:500180
Spastic Paraplegia 4, Autosomal Dominant
Low back pain, Lower limb spasticity, Aggressive behavior, Degeneration of the lateral corticospi... OMIM:182601
Cerebrotendinous Xanthomatosis
Osteopenia, Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal ce... ORPHA:909
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... OMIM:618811
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:171612
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Short stature, Hypoplasia of the pons, Inabili... OMIM:617695
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus OMIM:619862
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... OMIM:616155
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Increased variability in m... OMIM:617235
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Tremor, Abnormal pyramidal tract morphology, Babinski si... ORPHA:83629
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Cerebellar calcifications, Parkinsonism, Chorea, Hand tremor, Athetosis, Motor tics OMIM:615483
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chronic axonal neuropathy, Periphe... OMIM:606002
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Kyphosis, Optic atrophy, Hypotonia... ORPHA:702
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Hyperlordosis, Fatty replacement of ... ORPHA:52430
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck... OMIM:616801
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Cerebral... OMIM:618088
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Hypotonia, Attention deficit hyperactivity disorder, Abnormal repetitive m... OMIM:618709
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... ORPHA:276241
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Facial hypotonia, Short stature, Overweight, Babinski sign, Hy... ORPHA:280763
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia ORPHA:240085
Alg11-Cdg
Axial hypotonia, Ataxia, Cerebral atrophy, Opisthotonus, Hypertonia, Scoliosis, Infantile muscula... ORPHA:280071
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait... OMIM:312750
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... OMIM:604391
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Torticollis, Foot dorsiflexor weakness, Ataxia, Small for gestational a... OMIM:619054
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Fronto... ORPHA:79097
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ... ORPHA:95
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... OMIM:618404
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Spinocerebellar Ataxia 47
Ataxia, Short stature, Chorea, Dysmetria, Generalized hypotonia, Spasticity, Cerebellar vermis at... OMIM:617931
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe... OMIM:613710
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Osteo... ORPHA:2671
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... ORPHA:444099
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... ORPHA:206436
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move... OMIM:619317
Foxg1 Syndrome
Dystonia, Short stature, Kyphoscoliosis, Inability to walk, Bruxism, Hypotonia, Choreoathetosis, ... ORPHA:561854
D-Glyceric Aciduria
Axial hypotonia, Optic nerve hypoplasia, Tongue thrusting, Spastic tetraplegia, Hypotonia, Opisth... OMIM:220120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... OMIM:620011
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Head titubation, Tremor, Rigidity, Gait ataxia, Choreoathetosis, Bradykinesia, Hype... OMIM:618877
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... OMIM:603516
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast... OMIM:258501
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Hypotonia, Opisthotonus, M... OMIM:620352
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Progressive cer... ORPHA:485350
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity OMIM:221820
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C... ORPHA:157846
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... OMIM:611637
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticit... ORPHA:363722
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand... OMIM:618760
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Bone cyst, Scoliosi... ORPHA:2047
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Opisthotonus, Hypertonia, Generalized hypotonia, Cervical cord co... ORPHA:508533
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... OMIM:619686
Pontocerebellar Hypoplasia, Type 8
Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Gait ataxia, Hypoplasia of the brainst... OMIM:614961
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Hypotonia... ORPHA:157973
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Progr... ORPHA:225147
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus OMIM:618567
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp... OMIM:611890
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Ataxia, Short stature, Impaired pain sensation, Abnormal cerebellum... ORPHA:1532
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Short... OMIM:312080
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... ORPHA:98
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Dystonia, Tremor, Optic atrophy, Cerebral atrophy, Dysphagia, Choreoathe... OMIM:619422
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... ORPHA:100993
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Ragged-red muscle fibers, Hypotonia, Weight loss, Generalized hypotonia, Slende... OMIM:613662
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Self-injurious ... OMIM:618004
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Axial hypotonia, Involuntary movements, Dystonia, Chorea, Paroxysma... OMIM:606703
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Neonatal hypotonia, Axial hypotonia, Short stature, Cachexia, Short neck, Elbow ... ORPHA:371364
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Symmetrical ... OMIM:231670
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... ORPHA:401768
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... ORPHA:268882
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Narp Syndrome
Optic disc pallor, Ataxia, Short stature, Babinski sign, Progressive gait ataxia, Corticospinal t... ORPHA:644
N-Acetylaspartate Deficiency
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Generalized hypotonia, Decreased ... OMIM:614063
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Babinski sign, Bone cyst, Cerebral atrophy, Axonal loss, In... OMIM:221770
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Short stature, Hyperlordosis... OMIM:615356
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... OMIM:618186
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:616139
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp... ORPHA:320355
Ritscher-Schinzel Syndrome 4
Ataxia, Short stature, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Agenesis o... OMIM:619435
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Axial hypotonia, Ataxia, Unsteady gait, Hypotonia, Choreoathetosis, Myoclonus... OMIM:301020
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Snijders Blok-Fisher Syndrome
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity OMIM:618604
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis, Self-injurious behavior... ORPHA:382
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... OMIM:617282
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Hyperlordosis, Sc... OMIM:611067
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Axial hypotonia, Tetraplegia, Opisthotonus, Progressive spastic qua... ORPHA:95232
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Generalized dystoni... OMIM:614298
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Progressive extrapyr... ORPHA:53351
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Hypotonia, Distal sensory i... OMIM:616287
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Chorea, Hypotonia, Choreoathetosis, Athetosis, Failure to thrive OMIM:309541
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Intellectual Developmental Disorder, Autosomal Recessive 58
Axial hypotonia, Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Sel... OMIM:617270
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Short stature, Spastic tetraparesis, Cra... ORPHA:2203
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Ataxia, Spastic tetraplegia, Hypotonia, Eyelid myoclonus, Opisthotonus OMIM:619913
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Hemiparesis, Bradykinesia, Truncal ataxia, Episod... OMIM:601338
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Dystonia, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the le... OMIM:618238
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... ORPHA:139399
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Agenesis ... ORPHA:506
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Porphyria, Acute Hepatic
Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Axial hypotonia, Cachexia, Hypotonia, Weight loss, Gait ataxia, Generalized hypotonia, Failure to... OMIM:612075
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Axial hypotonia, Hypoplasia of the pons, Choreoathetosis, Dystonia, Spasticity OMIM:614249
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G... ORPHA:445062
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia OMIM:618587
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, C... OMIM:610217
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Familial Congenital Mirror Movements
Cerebral palsy, Clumsiness, Poor fine motor coordination, Fused cervical vertebrae, Abnormal cort... ORPHA:238722
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea, Hypotonia, Generalized hypotonia OMIM:614055
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance, Dysphagia OMIM:607674
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Corticospinal tract atrophy, Ataxia OMIM:551500
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Short stature, Chorea, Hypotonia, Athetos... ORPHA:52503
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Sydenham Chorea
Chorea, Unsteady gait, Inappropriate behavior, Hemiballismus, Generalized hypotonia, Compulsive b... ORPHA:306731
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Overweight, Tremor, Cranial hyperostosis, Hypotonia, Hyperkinetic movements, Glios... ORPHA:457240
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Bradykinesia, Limb hypertonia ORPHA:70594
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Proximal limb muscle ... OMIM:184850
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... ORPHA:289560
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Hypotonia, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Cerebellar hypopl... ORPHA:255138
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... ORPHA:2476
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Increased skull ossification, Optic atrophy, Cerebral atrophy, Self-injurious... OMIM:619690
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Hypotonia, Cerebral atrophy, Spasticity, Scoliosis, Difficulty walking, Joint contracture, Failur... OMIM:617393
Nasu-Hakola Disease
Hydrocephalus, Chorea, Bone cyst, Reduced bone mineral density, Disinhibition, Oculomotor apraxia... ORPHA:2770
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Developmental And Epileptic Encephalopathy 17
Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia OMIM:615473
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... OMIM:270550
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Hypo... OMIM:612438
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Exaggerated startle response, Hypoplasia of the pyramidal... OMIM:253800
Multiple Mitochondrial Dysfunctions Syndrome 1
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... OMIM:605711
Mcdonough Syndrome
Short stature, Cachexia, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... ORPHA:496756
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Neonatal hypotonia, Severe mus... OMIM:617519
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Hypotonia, Myoclonus, Scoliosis, Attention ... OMIM:617600
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb ataxia, Ga... ORPHA:227510
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia ORPHA:98809
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Abnormal cerebellum morpholog... OMIM:211530
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Opisthotonus OMIM:619685
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy,... OMIM:278800
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impair... ORPHA:88644
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneration affecting the brainst... ORPHA:99852
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Somatic sensory dysfunction, Abnormal medulla oblongata morph... ORPHA:297
Developmental And Epileptic Encephalopathy 40
Axial hypotonia, Small for gestational age, Spastic tetraparesis, Hypotonia, Choreoathetosis, Myo... OMIM:617065
Canavan Disease
Optic atrophy, Hypotonia, Abnormal pyramidal sign, Opisthotonus, Brain atrophy OMIM:271900
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Infantile axial hypotonia, Oral-pharyngeal dys... ORPHA:2524
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... OMIM:300623
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia... OMIM:617804
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertonia, Axial hypotonia, Opisthotonus OMIM:616896
Crisponi/Cold-Induced Sweating Syndrome 1
Facial palsy, Kyphoscoliosis, Short neck, Elbow flexion contracture, Opisthotonus, Camptodactyly OMIM:272430
Alexander Disease
Osteopenia, Clonus, Short neck, Aqueductal stenosis, Tremor, Chorea, Abnormal pyramidal sign, Age... ORPHA:58
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... ORPHA:254886
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Short stature, Kyphosis, Slu... OMIM:230650
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Hypotonia, Truncal ataxia, Abnormal repetitive mannerisms, I... OMIM:608636
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ... ORPHA:3095
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Optic atrophy, Hypotonia, Cere... OMIM:616034
Rabies
Cerebral palsy, Anorexia, Paresthesia, Attention deficit hyperactivity disorder, Vocal cord paresis ORPHA:770
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Scoli... ORPHA:369847
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Short stature, Ataxia, Cachexia, Decreased nerve conduction velocity ORPHA:1933
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Gait ataxia, Clumsiness, Titubation, Bradykinesia, Myoclonus ORPHA:98768
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Dyspha... ORPHA:70472
Hsd10 Disease
Ataxia, Tremor, Rigidity, Postnatal growth retardation, Optic atrophy, Frontotemporal cerebral at... ORPHA:391417
Lesch-Nyhan Syndrome
Dystonia, Short stature, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnor... OMIM:300322
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased muscle mass, C... ORPHA:298
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia... ORPHA:324588
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Hydrocephalus, Craniofacial osteosclerosis,... OMIM:618476
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Axial hypotonia, Ataxia, Small for gestational age, Kyphoscoliosis, Fail... ORPHA:59
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity OMIM:304700
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... OMIM:162100
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, ... OMIM:612069
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Small for gestational age, Short stature, Kyphosis, Repetitive com... ORPHA:352490
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Spastic diplegia, Generalized hypotonia, Abnormal repetitive ma... OMIM:617830
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Hypo... OMIM:252160
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia, Cachexia ORPHA:1216
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... OMIM:617854
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit... OMIM:617820
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Huntington Disease-Like 3
Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Flexion contracture,... ORPHA:157946
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Flexion contracture, Abnormal pyramidal sign, Unsteady gait, Spa... OMIM:604802
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Axonal degeneration, Poor coordination, Abnormal muscle tone, Neurodegeneration... ORPHA:478029
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Delayed epiphyseal ossification, Cerebral atrophy, Agenesis of corpus callosum, Mo... ORPHA:166024
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Developmental And Epileptic Encephalopathy 101
Axial hypotonia, Limb joint contracture, Hypotonia, Opisthotonus, Myoclonus OMIM:619814
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Generalized hypotonia, ... OMIM:616811
Chorea, Benign Familial
Chorea OMIM:215450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Ataxia, Facial hypotonia, Rigidity, R... OMIM:300260
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Short stature, Optic nerve hypoplasia, Inability to walk, Chorea, S... OMIM:617864
Diencephalic Syndrome
Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Intrauterine growth retardation, Spasticity, Opisthotonus OMIM:610678
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Cerebellar vermis hypoplasia, Facial hypotonia, Optic atrophy, Hypotonia, Gait ... OMIM:617807
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitatio... ORPHA:803
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Reduced bone mineral density, Axonal loss, Gliosis, Athetosis, Myoclonus, Scoliosis, Ocul... ORPHA:404454
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Dystonia, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Hypotonia... OMIM:617664
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Dystonia, Congenital diaphragmatic hernia, Craniosynostosis, Abnormal repetitive ... ORPHA:261197
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axonal l... OMIM:252150
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic... ORPHA:500144
Cimdag Syndrome
Cerebellar vermis hypoplasia, Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atroph... OMIM:619273
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ... ORPHA:99949
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Clonus, Hypoplasia of the pons, Abnormal pyramidal sign, Hypoplasia of t... ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Short stature, Hyperlordosis, Aggressive behavior, Hypotonia, Self-injurious behavior, Hy... OMIM:300986
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Corpus callos... OMIM:601162
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... ORPHA:206594
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Axial hypotonia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia,... ORPHA:255182
Striatonigral Degeneration, Infantile
Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive OMIM:271930
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination ORPHA:171442
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Congen... ORPHA:300570
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Arthrogryposis multiplex congenita, Abn... OMIM:615282
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Meningocele, Duodenal stenosis, Abnormal tricuspid valve mo... ORPHA:1759
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech... ORPHA:240071
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Short stature, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Intrauter... OMIM:616339
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Tics, Attention defici... ORPHA:66624
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion co... OMIM:304340
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... OMIM:600795
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia... ORPHA:2388
Smith-Magenis syndrome
Hyperactivity, Short stature, Hypotonia, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, D... OMIM:616437
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Distal sensory impairm... OMIM:263570
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Ataxia, Generalized dystonia, Cerebral atrophy, Choreoathetosis, Hypertonia, Agi... OMIM:272300
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Neonatal hypotonia, ... OMIM:618557
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired pain sensation, Impaired temperature sensation, Centrally nucleated skel... OMIM:619574
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms OMIM:617171
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal brainstem morphology, Abnormal pyramidal sign, Hy... ORPHA:79279
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Growth delay, Dystonia ORPHA:289916
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus... OMIM:619092
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized hypotonia, Paroxysmal dyskinesia ORPHA:79137
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Cockayne Syndrome
Skeletal muscle atrophy, Progressive gait ataxia, Congenital contracture, Gliosis, Hypertonia, In... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Small for gestational age, Ataxia, Failure to thrive in infancy, S... OMIM:614104
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Hypotonia, Growth delay, Self-injurious behavior, Agenesis of corpu... ORPHA:238750
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Short stature, Camptodactyly of finger, Cachexia, Short neck, Ag... ORPHA:85293
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism ORPHA:412066
Jaberi-Elahi Syndrome
Appendicular spasticity, Failure to thrive, Broad-based gait, Tremor, Kyphosis, Inability to walk... OMIM:617988
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Generalized hypotonia, Dysphag... ORPHA:280195
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Hypotonia, Opisthotonus OMIM:613661
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Spastici... ORPHA:171695
Episodic Ataxia Type 1
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle h... ORPHA:37612
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hyperlordosis, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystroph... ORPHA:369840
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Autosomal Recessive Spastic Paraplegia Type 39
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... ORPHA:139480
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Hypotonia, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements... OMIM:618497
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:300271
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Hypotonia, Myopathy, Distal arthrogryposis ORPHA:42
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus, Dysphagia, Arthrogryposis multiplex congenita, Decreased body weight, Int... OMIM:608013
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... OMIM:612020
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy... OMIM:203700
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Spasticity ORPHA:98760
Chromosome 18Q Deletion Syndrome
Broad-based gait, Failure to thrive in infancy, Short stature, Short neck, Tremor, Chorea, Poor c... OMIM:601808
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Tethered cord, Short stature, Impulsivity, Aggressive behavior, Myelomeningocele, ... OMIM:620141
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C... ORPHA:48818
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Short stature, Gait apraxia, Optic atrophy, Hypoto... OMIM:617302
3-Methylglutaconic Aciduria, Type Ix
Clonus, Short neck, Aggressive behavior, Optic atrophy, Hypotonia, Cerebral atrophy, Choreoatheto... OMIM:617698
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Hypertonia, Opisthotonus ORPHA:3304
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:618141
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Dystonia, Cerebral atrophy, Choreoathetosis, Distal amyotrophy, Dysphagia, Li... OMIM:618247
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... OMIM:613670
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Spastic tetraparesis, Proportionate short ... ORPHA:3208
Systemic Lupus Erythematosus 17
Chorea, Myelitis OMIM:301080
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive... OMIM:239500
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Axial hypotonia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp... OMIM:618451
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Hypotonia, Choreoathetosis, Myoclonus, Failure to thrive, Global brain atrophy OMIM:609056
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis, Hyperlordosis OMIM:614198
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Axial hypotonia, Chorea, Hypotonia, Bruxism, Spasticity OMIM:620149
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Bradykinesia, Truncal ataxia, In... OMIM:258450
Cln3 Disease
Bradykinesia, Extrapyramidal muscular rigidity, Ataxia ORPHA:228346
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Hypertonia, Opisthotonus OMIM:250800
Childhood-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Clumsiness ORPHA:171439
Poliomyelitis
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... ORPHA:2912
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Hypotonia, Hypoplasia of t... OMIM:617751
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... ORPHA:275864
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Optic atrophy, Cataplexy, Tetraple... ORPHA:496641
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor... ORPHA:306682
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Short stature, Inab... ORPHA:280210
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Frequent falls ORPHA:75567
Nmda Receptor Encephalitis
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... ORPHA:217253
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Optic atrophy, Hypotonia, Fused cervica... ORPHA:530983
Joubert Syndrome 32
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Hypotonia,... OMIM:617757
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Renpenning Syndrome
Growth delay, Skeletal muscle atrophy, Severe short stature, Cachexia ORPHA:3242
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralys... ORPHA:221098
Meckel Syndrome 13
Occipital encephalocele, Ataxia, Oculomotor apraxia, Flexion contracture, Cerebellar hypoplasia, ... OMIM:617562
Trisomy 18
Short stature, Camptodactyly of finger, Cachexia, Spina bifida, Congenital diaphragmatic hernia, ... ORPHA:3380
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap... ORPHA:43
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Dysmetria, Hyperactivity, Ataxia, Hamstring contractures, Gait disturbance, Oculom... ORPHA:139396
Joubert Syndrome 25
Ataxia, Oculomotor apraxia, Cerebellar hypoplasia, Generalized hypotonia, Molar tooth sign on MRI OMIM:616781
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Short stature, Abnormal eating beha... ORPHA:209905
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Ataxia, Generalized dystonia, Aggressive behavior, Chorea, Spastic tetraplegia, ... OMIM:618321
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Short stature, Growth delay, Decreased body weight, Intrauterine growth retar... OMIM:618347
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:168600
Slc35A2-Cdg
Cerebellar atrophy, Osteopenia, Axial hypotonia, Failure to thrive in infancy, Abnormal midbrain ... ORPHA:356961
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Perry Syndrome
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:168605
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Axial hypotonia, Ataxia, Facial palsy, Dystonia, Rigid... OMIM:608804
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl... ORPHA:85285
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:617964
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Superficial Siderosis
Back pain, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait a... ORPHA:247245
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Generalized hypotonia OMIM:606053
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210200
Smith-Magenis Syndrome
Failure to thrive in infancy, Short stature, Impaired pain sensation, Obesity, Abnormal form of t... ORPHA:819
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Hypotonia, Occipital cortical atrophy, Myoclonus, Abno... ORPHA:411986
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Short stature, Axial hypotonia, Short neck... OMIM:615802
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Short stature, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, ... OMIM:620023
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C... ORPHA:79264
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Opisthotonus, Right ventricular hypertrophy ORPHA:335
Birk-Aharoni Syndrome
Axial hypotonia, Inability to walk, Chorea, Spastic tetraplegia, Failure to thrive OMIM:620071
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordosis, Inabil... ORPHA:268
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Short neck, Hypotonia, Intrauterine growth retardation ORPHA:1438
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypotonia, Generalized hypotonia, Molar... OMIM:609583
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
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia, Failure ... OMIM:210210
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hypotonia, Ataxi... ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Generalized hypotonia, Spasticity, Dystonia OMIM:613970
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Anorexia, ... ORPHA:1328
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v... ORPHA:800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Short stature, Anterior concavity of thoracic vertebrae, Limb ataxia, Self-inju... OMIM:617101
Rett Syndrome, Congenital Variant
Neonatal hypotonia, Dystonia, Kyphosis, Chorea, Tongue thrusting, Athetosis, Scoliosis, Bruxism, ... OMIM:613454
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Aredyld Syndrome
Craniofacial hyperostosis, Short stature, Cachexia, Scoliosis, Intrauterine growth retardation ORPHA:1133
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Tetrasomy 12P
Short stature, Hypotonia, Cachexia, Short neck ORPHA:884
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... OMIM:618718
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Postnatal growth retardatio... OMIM:269150
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Abnormal repetitive mannerisms, Babinski sign, Scissor gait, Spastic tetrapl... OMIM:619121
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth re... ORPHA:813
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... ORPHA:168491
D-Glyceric Aciduria
Chorea, Myoclonus, Brain atrophy, Infantile muscular hypotonia, Spasticity ORPHA:941
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Holoprosencephaly
Encephalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Short neck, Hydroce... ORPHA:2162
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Variegate Porphyria
Paralysis OMIM:176200
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Whipple Disease
Myositis, Ataxia, Anorexia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Polydipsia ORPHA:3452
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Postnatal growth retardation, Flexion contracture, Opisthotonus, Hypertonia... ORPHA:435628
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth dela... OMIM:612716
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Craniosynostosis, Attention deficit hyperactivity disorder, Generalized hypotonia... OMIM:618906
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus OMIM:168601
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Scoliosis, Generaliz... OMIM:618416
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Optic atrophy, Spastic tetraplegia, Hypotonia, Choreoathetosis... OMIM:300438
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:615530
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor c... ORPHA:25
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Ataxia, Progressive flexion contractures, Dystonia, Repetitive compulsive b... ORPHA:522077
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Short stature, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of verteb... OMIM:616583
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Hypotonia, Attention defi... OMIM:301029
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Waddling gait, Short stature, Reduced bone mineral density, Platyspondyly, Delayed ossification o... OMIM:617974
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypoplasia of the pons, Abnormal pyramidal sign, Knee flexion contra... ORPHA:468631
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... ORPHA:99956
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... OMIM:606070
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Growth... OMIM:308350
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypotonia, Hy... OMIM:610688
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Axial hypotonia, Involuntary movements, Optic nerve hypop... ORPHA:572013
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Parkinsonism, F... ORPHA:1320
Developmental And Epileptic Encephalopathy 107
Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia OMIM:620033
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Hydrocephalus, Optic atrophy, Spasticity ORPHA:220295
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Anal atresia ORPHA:2345
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Waddling gait, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Sh... ORPHA:99642
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Foot dorsiflexor weakness, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesi... ORPHA:171629
Severe Oculo-Renal-Cerebellar Syndrome
Short stature, Optic atrophy, Spastic diplegia, Hypotonia, Choreoathetosis, Scoliosis, Aplasia/Hy... ORPHA:2715
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Somatic sensory dysfunction, Torticollis, Anorexia... ORPHA:370348
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Gait disturbance, Carpal os... ORPHA:2774
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... ORPHA:220497
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Aggressive behavior, Tremor, Brain atrophy, Bruxism, Attention defi... OMIM:618342
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction v... OMIM:614932
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hydrocephalus... ORPHA:220493
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Imp... ORPHA:2131
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Postnatal growth retardation, P... OMIM:620242
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal tract hypoplasia, Spasticit... OMIM:307000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Gait ataxia, Bradykinesia, P... OMIM:157640
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Short stature, Thoracolumbar kyphoscoliosis, Short neck, Aggressive behavior, Postnat... OMIM:212066
Smith-Magenis Syndrome
Hyperactivity, Short stature, Impaired pain sensation, Self hugging, Increased body weight, Head-... OMIM:182290
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss, Fasciculations, Distal sensory impairment ORPHA:84142
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis, Scoliosis OMIM:619735
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Axial hypotonia, Optic neuropathy, ... OMIM:618249
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... ORPHA:64753
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener... OMIM:312170
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity, Growth delay OMIM:312840
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Hypo... ORPHA:467166
Combined Oxidative Phosphorylation Defect Type 13
Limb dystonia, Hip contracture, Axial hypotonia, Ankle flexion contracture, Decreased nerve condu... ORPHA:319514
Osteogenesis Imperfecta, Type Xv
Short stature, Hypoplasia of the pons, Platyspondyly, Cerebellar hypoplasia, Scoliosis OMIM:615220
Hydranencephaly
Optic nerve hypoplasia, Postnatal growth retardation, Spastic diplegia, Opisthotonus, Intrauterin... ORPHA:2177
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Hypotonia, Compulsive beh... OMIM:618430
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia ORPHA:683
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Small for gestational age, Sh... OMIM:617799
Caudal Duplication
Myelomeningocele, Intestinal duplication, Spina bifida ORPHA:1756
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Small for gestational age, Hypoton... OMIM:615471
Bilateral Generalized Polymicrogyria
Axial hypotonia, Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia... ORPHA:208447
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia OMIM:618829
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Flexion contracture, Opisthotonus, Hypertonia, Scoliosis, Failure to thrive OMIM:614098
Developmental And Epileptic Encephalopathy 100
Axial hypotonia, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Hypotonia, Cerebral ... OMIM:619777
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Cachexia, Paralysis, Hydrocephalus, Oculomotor apraxia, Spastic pa... ORPHA:2072
Mcleod Syndrome
Chorea, Rhabdomyolysis, Myopathy, Compulsive behaviors, Dystonia, Motor axonal neuropathy, Impair... OMIM:300842
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... ORPHA:309271
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia ORPHA:63260
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Intrauterine growt... OMIM:603194
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ... OMIM:609223
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Optic ... ORPHA:391428
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Hypotonia, Disproportionate tall stature, Scoliosis ORPHA:2058
Pulmonary Blastoma
Weight loss ORPHA:64741
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Poor coordination, Optic atrophy, Scoliosis, Failure to thrive OMIM:610965
Gm1-Gangliosidosis, Type Ii
Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Hypoplastic vertebral bodies, Platy... OMIM:230600
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Cerebellar hypoplasia, Scoliosis, Infantile muscular hypotonia, Abno... ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Inten... ORPHA:157850
Wildervanck Syndrome
Meningocele ORPHA:3456
Joubert Syndrome 22
Agenesis of cerebellar vermis, Oculomotor apraxia, Temporal cortical atrophy, Generalized hypoton... OMIM:615665
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Ankle flexion contracture, Inability to walk, Hypotonia, Cerebral atrophy, Ge... OMIM:617802
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Kyphoscoliosis, Camptodactyly, Molar toot... OMIM:614815
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Muscle fiber necrosis... ORPHA:449285
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Abnormal repetitive mannerisms OMIM:615541
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... ORPHA:411602
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spinal cord tumor, Syringomyelia, ... ORPHA:251937
Cri-Du-Chat Syndrome
Hyperactivity, Small for gestational age, Diastasis recti, Short neck, Aggressive behavior, Optic... OMIM:123450
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Incoordination, Facial hypotonia, Short stature, Congenital di... ORPHA:468678
Birk-Landau-Perez Syndrome
Camptocormia, Failure to thrive in infancy, Facial hypotonia, Axial hypotonia, Optic atrophy, Lim... OMIM:617595
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... OMIM:614424
Diaphanospondylodysostosis
Myelomeningocele, Cleft palate ORPHA:66637
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing OMIM:614857
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Intention tremor ORPHA:93256
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis ORPHA:93304
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Short stature, Polyphagia, Hypotonia, Growth delay, Self-injurious behavio... ORPHA:228402
Congenital Myopathy 15
Osteopenia, Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased ... OMIM:620161
Metatropic Dysplasia
Relatively short spine, Peripheral axonal neuropathy, Severe short stature, Kyphoscoliosis, Abnor... OMIM:156530
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Neonatal hypotonia, Failure to... DECIPHER:45
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Joubert Syndrome 37
Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Short stature, Oculomotor apraxia, Obesity, G... OMIM:619185
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Rheumatic Fever
Anorexia, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Hemibal... ORPHA:3099
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Agitation, Abno... ORPHA:778
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Sacral dimple, Short stature, Impulsivity, Unilateral vocal cord paralysis, H... OMIM:301030
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... OMIM:213300
Sirenomelia
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Humero-Radial Synostosis
Meningocele ORPHA:3265
Joubert Syndrome 7
Encephalocele, Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Scol... OMIM:611560
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Young-Onset Parkinson Disease
Tremor, Spasticity, Rigidity, Bradykinesia ORPHA:2828
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced bone mineral density, Flexion contracture, Cachexia, Weight loss ORPHA:1979
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypotonia, Frontal cortical atrophy, Abnor... ORPHA:228384
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... ORPHA:313892
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Hypotonia, Attention deficit hyperactivity disorder, Scoliosis, Abnormal... ORPHA:10
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Osteoarthritis With Mild Chondrodysplasia
Short stature, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebral... OMIM:604864
Coach Syndrome 1
Encephalocele, Optic disc pallor, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, ... OMIM:216360
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, G... OMIM:233910
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Axial hypotonia, Ataxia, Overweight, Tremor, Inability to walk, Obesity, S... OMIM:619229
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Axial hypotonia, Short stature, Optic nerve hypoplas... OMIM:300749
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetria, Titubation, Spasticity ORPHA:459056
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Spondyloenchondrodysplasia
Short stature, Kyphosis, Chorea, Disproportionate short-trunk short stature, Platyspondyly, Spast... ORPHA:1855
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... ORPHA:726
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Growth de... ORPHA:66634
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Short stature, Hydrocephalus, Abnormal brainstem morphology, Reduced bone mineral density... ORPHA:2720
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Cachexia, Kyphosis, Meningocele, Osteoporosis, Hypotonia, Du... ORPHA:558
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Flexion contracture, Hypotonia, Chiari malformation, Scoliosis, Attention... OMIM:619293
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Osteolytic defects of the mid... ORPHA:765
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr... OMIM:264180
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib puncta... ORPHA:1426
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Molar tooth sign on MRI, Agenesi... OMIM:619111
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Scoliosis, Ge... OMIM:610883
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Hypotonia, Myopathy, Scoliosis, Tall stature ORPHA:109
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Hydrocephalus, Optic d... OMIM:608091
Coffin-Siris Syndrome 7
Hyperactivity, Severe temper tantrums, Short stature, Sagittal craniosynostosis, Hypotonia, Chiar... OMIM:618027
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Hydrocephalus, Hypoto... ORPHA:2318
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Bradykinesia, Hypertoni... ORPHA:254892
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Flexion contracture, Spastic paraplegia, Hypotonia, Choreoathetos... OMIM:612233
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Axial hypotonia, Aganglionic megacolon, Short stature, Dystonia... OMIM:300352
Norrie Disease
Clonus, Cachexia, Delayed puberty, Optic atrophy, Hypotonia, Self-injurious behavior, Hypertonia,... ORPHA:649
7Q11.23 Microduplication Syndrome
Sacral dimple, Collectionism, Hyperactivity, Short stature, Congenital diaphragmatic hernia, Shor... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Abnormal repetitive mannerisms, Hypotonia OMIM:613443
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Postnatal gro... OMIM:300912
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Hijazi-Reis Syndrome
Lower limb spasticity, Postnatal growth retardation, Hypotonia, Ankle clonus, Gait disturbance, A... OMIM:301094
Coffin-Siris Syndrome 6
Short stature, Kyphoscoliosis, Tics, Attention deficit hyperactivity disorder, Generalized hypoto... OMIM:617808
Triploidy
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Abnormal cardiac ... ORPHA:3376
Pick Disease Of Brain
Abnormal repetitive mannerisms, Gliosis, Inappropriate laughter, Disinhibition, Neuronal loss in ... OMIM:172700
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Hypoesthesia, Ragged-red muscle fibers, Weight loss, Distal sensory impairment, Distal ... OMIM:603041
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Delayed epiphyseal ossif... ORPHA:750
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Weig... OMIM:619487
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fib... ORPHA:255210
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder OMIM:620065
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Cachexia, Anorexia OMIM:175500
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Short stature, Anorexia, Cachexia, Kyphosis, Scoliosis ORPHA:1969
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Short stature, Aggressive behavior, Obesity, Self-injurious be... OMIM:600430
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Anophthalmia Plus Syndrome
Cleft palate, Spina bifida, Bilateral cleft lip and palate ORPHA:1104
Gitelman Syndrome
Salt craving, Ataxia, Paralysis, Rhabdomyolysis, Growth delay, Paresthesia, Delayed puberty, Poly... OMIM:263800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Short stature, Kyphoscoliosis, Short neck, Hy... OMIM:300232
Duplication Of The Pituitary Gland
Encephalocele, Lower limb spasticity, Thoracic scoliosis, Abnormal odontoid process morphology, A... ORPHA:314621
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Thenar muscle atrophy, Moderately short stature, Flexion contracture, Platyspondyly, ... ORPHA:157965
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Osteopenia, Short neck, Cortical thickening of long bone diaphyses, ... ORPHA:309282
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Hypotonia, Agenesis of corpus callosum... OMIM:619312
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Partial agenesis of th... OMIM:619512
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Cerebellar hypoplasia, Intrauterine grow... ORPHA:163966
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... OMIM:615905
Tuberculosis
Weight loss ORPHA:3389
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Occipital encephalocele, Cerebellar vermis hypoplasia, Short sta... ORPHA:397715
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Aggressive behavior, Tremor, Kyphosis, Hypotonia, Dysphagia... OMIM:617061
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High pala... ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disorder, Obs... OMIM:618825
Majeed Syndrome
Increased bone mineral density, Cachexia, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Hypotonia, Growth delay, Head tremor, Abnormal repetitive mannerisms, Cerebral cortical a... OMIM:619428
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis OMIM:614924
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Hypotonia OMIM:618067
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul... OMIM:601992
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Short stature, Cer... OMIM:255800
Stickler Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal ... ORPHA:828
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Severe short... ORPHA:93314
Pseudohypoaldosteronism Type 2
Growth delay, Short stature, Periodic paralysis ORPHA:757
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Neuroendocrine neoplasm, Anorexia, Weight loss ORPHA:100083
Neuroblastoma, Susceptibility To, 1
Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang... OMIM:256700
Seckel Syndrome
Short stature, Craniosynostosis, Cachexia, Scoliosis, Intrauterine growth retardation ORPHA:808
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Increased upper to lower seg... ORPHA:168549
White-Sutton Syndrome
Waddling gait, Hyperactivity, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic ... OMIM:616364
Bainbridge-Ropers Syndrome
Inability to walk, Hypotonia, Growth delay, Contracture of the proximal interphalangeal joint of ... OMIM:615485
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Williams Syndrome
Osteopenia, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defe... ORPHA:904
Oromandibular Dystonia
Limb dystonia, Torticollis, Generalized dystonia, Dysphagia, Weight loss, Blepharospasm, Hyperkin... ORPHA:93958
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Brain ... ORPHA:666
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Waddling gait, Short stature, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle ... OMIM:612350
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Short neck, Agenesis of corpus callosum, Scoliosis, Attention defic... OMIM:620073
Dyggve-Melchior-Clausen Disease
Hyperactivity, Severe short stature, Rhizomelia, Frequent falls, Spastic tetraparesis, Short neck... ORPHA:239
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Abnormal m... ORPHA:444072
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Elbow flexio... OMIM:607095
Wolman Disease
Growth delay, Cachexia ORPHA:75233
Progressive Pseudorheumatoid Arthropathy Of Childhood
Waddling gait, Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short s... ORPHA:1159
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Paralysis, Rigidity, Bone cyst, Osteolysis, Cerebral atrophy, Tetraple... ORPHA:2396
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, High palate, Spina bifida ORPHA:1327
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Sho... OMIM:617330
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Tics, Compulsive behav... OMIM:619475
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Increased bone mineral density, K... ORPHA:93284
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disp... OMIM:253010
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... ORPHA:397744
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Facial hypotonia, Diastasis recti, Impaired pain sensation, Hypotonia, Gait ataxi... OMIM:616579
Alg3-Cdg
Macroglossia, Neural tube defect, Cardiomyopathy, High palate, Abnormal uvula morphology ORPHA:79321
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Cleft palate ORPHA:60015
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Spondyloepiphyseal Dysplasia Congenita
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Small for gestational age, Short neck, Flexion contracture, Platyspondyly, Cerebellar... OMIM:616897
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperactivity, Axial hypotonia... OMIM:617796
Chronic Hiccup
Abnormal eating behavior, Abnormality of the diaphragm, Weight loss ORPHA:396
Desbuquois Dysplasia 1
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoporosis, Obesity, ... OMIM:251450
Dpagt1-Cdg
Tremor, Flexion contracture, Hypertonia, Infantile axial hypotonia, Diffuse optic disc pallor, At... ORPHA:86309
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... OMIM:245348
Cystinosis
Short stature, Abnormal pyramidal sign, Rickets, Myopathy, Gait disturbance, Delayed puberty, Pol... ORPHA:213
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Anomalous pulmonary venous return, Cleft palate, Umbilical hernia, Spina bifida occu... ORPHA:2311
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, A... ORPHA:68
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi... ORPHA:1393
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb dystonia, Inability to walk, Infantile muscular hypotonia, Self-injurious behavior, Scoliosi... ORPHA:457351
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive ORPHA:79312
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:230800
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Short stature, Ataxia, Kyphosis, Hypotonia, Scoliosis, Abnormal repetitive mannerisms ORPHA:2479
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis OMIM:609454
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Failure to thrive, Abnormal repetiti... ORPHA:927
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypotonia, Periodic paralysis OMIM:170400
Kinsship Syndrome
Osteopenia, Sacral dimple, Short stature, Spastic tetraparesis, Short neck, Bruxism, Hypotonia, M... OMIM:619297
Fatal Familial Insomnia
Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Dysphagia, Neuronal... OMIM:600072
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Lethal short-limbed short stature, Cerebellar hypoplasia OMIM:187601
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
Galactose Epimerase Deficiency
Growth delay, Hypotonia, Weight loss ORPHA:79238
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Torticollis, Short neck, Inability to walk by childhood/adolescence, Hypotoni... OMIM:620224
Angioedema, Hereditary, 1
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Monosomy 18Q
Short stature, Kyphoscoliosis, Hydrocephalus, Poor coordination, Choreoathetosis, Growth delay, C... ORPHA:1600
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Ataxia, Oculomotor apraxia, Obesity, Hypotonia, Hyper... OMIM:612291
Vici Syndrome
Cerebellar vermis hypoplasia, Postnatal growth retardation, Hypotonia, Myopathy, Dysphagia, Left ... OMIM:242840
Kniest Dysplasia
Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Delayed epiphyseal ossif... ORPHA:485
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Temporal cortical atrophy, As... ORPHA:100070
Classic Hodgkin Lymphoma
Ataxia, Osteolysis, Anorexia, Weight loss ORPHA:391
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Short stature, Delayed epiphyseal oss... ORPHA:79106
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Delayed epiphy... OMIM:177170
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Craniosynostosis, Hypotonia, Self-injurious behavior, Agenesis of corp... OMIM:613174
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Axial hypotonia, Ataxia, Short stature, Broad-based gait, Aggressive behavior, Uns... OMIM:614756
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Scoliosis, Peri... ORPHA:37553
Bruck Syndrome 1
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, O... OMIM:259450
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness OMIM:612300
Waardenburg Syndrome Type 1
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida ORPHA:894
Mucopolysaccharidosis Type 3
Flexion contracture, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, Reduced bone... ORPHA:581
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Weight loss OMIM:188580
Intestinal Dysmotility Syndrome
Failure to thrive, Hypotonia, Weight loss OMIM:620045
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, Hypotonia, Attention deficit hyperactivity disor... OMIM:618205
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... ORPHA:1782
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Primary Sjögren Syndrome
Somatic sensory dysfunction, Myositis, Abnormality of the peripheral nervous system, Abnormal cer... ORPHA:289390
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ataxia, Hypotonia, Knee flexion contracture, Scoliosis, A... ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-ban... OMIM:619103
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Mild sho... OMIM:620292
Alazami Syndrome
Abnormal eating behavior, Postnatal growth retardation, Scoliosis, Abnormal repetitive mannerisms... ORPHA:319671
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Kyphosis, Gait ataxia, Compulsive behaviors, Scoliosis, Attention de... ORPHA:476126
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Short stature, Kyphoscoliosis, Osteoporo... OMIM:614856
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Spinal cord compression, Platyspondyly, Delayed ossification of ca... ORPHA:93346
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Scoliosis, Abnormal repetitive... ORPHA:391307
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia ORPHA:228371
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular verteb... OMIM:156500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Diastasis rect... OMIM:253220
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis OMIM:601104
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Rhabdomyolysis, Agitation, A... ORPHA:94093
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Osteo... ORPHA:174
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Elbow contracture, Short stature, Hypotonia, Clumsiness, Compulsive behaviors, Attention ... OMIM:615656
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hypotonia, Choreoathetosis OMIM:612164
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Dysphagia, Neonatal hypotonia, EMG: myopathic abnormalities, Periodic ... ORPHA:684
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Axial hypotonia OMIM:619877
X-Linked Intellectual Disability, Cantagrel Type
Neonatal hypotonia, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Tetraparesis ORPHA:85277
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Tongue thrusting, ... OMIM:608643
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Childhood-onset short-trunk short stature, Platysp... OMIM:113500
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Short stature, Rhabdomyosarcoma, Cachexia, Short neck, Attention deficit... ORPHA:647
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Hypotonia, Weight loss, Growth delay ORPHA:79242
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Small for gestational age, Ankle flexion contra... ORPHA:464311
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, Hydrocephalus, Hypotonia, Head-banging, Chiari type I malformation, Se... OMIM:619575
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Short stature, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis OMIM:170390
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Short neck, Hypotonia, Weight loss, Severe short-limb dwarfism, Failure to thrive ORPHA:1842
Wilson Disease
Back pain, Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Clumsiness, P... ORPHA:905
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Neonatal hypotonia, Ataxia, Aggressive behavior, Unsteady gait, ... ORPHA:457279
Geroderma Osteodysplastica
Severe short stature, Vertebral compression fracture, Hypotonia, Abnormal form of the vertebral b... ORPHA:2078
Cole-Carpenter Syndrome 2
Osteopenia, Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Hypotonia, Plat... OMIM:616294
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... ORPHA:217260
Smith-Mccort Dysplasia 1
Waddling gait, Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of t... OMIM:607326
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Short stature, Spinal dysraphism, Unilateral vocal cord par... OMIM:617660
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Hypotonia, Growth delay, Macroglossia, Agenesis of corpus callosum, Scoliosis, Abnormal... ORPHA:261144
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Galloway-Mowat Syndrome 9
Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis OMIM:619603
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Meningocele ORPHA:2031
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity, Hypotonia OMIM:613886
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Trisomy 20P
Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Hypotonia, Abnormal ... ORPHA:261318
Menkes Disease
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Osteoporosis, Hypotonia, Hypertonia... ORPHA:565
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Paralysis, Rickets, Reduced bone mineral density, Growth delay, Poly... ORPHA:18
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Disproportionat... ORPHA:93352
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Small thenar eminence, Self-injurious behavior,... OMIM:618914
Joubert Syndrome 39
Occipital encephalocele, Pain insensitivity, Cerebellar vermis hypoplasia, Overweight, Oculomotor... OMIM:619562
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Hemivertebrae, Hypotonia, Cerebral atroph... OMIM:301040
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Intrauterine growth retardation, Decreas... OMIM:300863
Glioblastoma
Paralysis ORPHA:360
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Paralysis OMIM:242100
Rauch-Steindl Syndrome
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Postnatal growth retardation, H... OMIM:619695
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... OMIM:130720
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Short stature, Kyphoscoliosis, Osteoporosis, Hypotonia, Reduced bone miner... OMIM:616507
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Short stature, Involuntary movements, Short neck, Spi... ORPHA:79443
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia OMIM:615637
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Dystonia, Tremor, Choreoathetosis, S... ORPHA:1934
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Generalized... OMIM:610042
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Lateral Meningocele Syndrome
Ventricular septal defect, High, narrow palate, Meningocele, High palate, Umbilical hernia ORPHA:2789
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Hypotonia... OMIM:614080
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Intestina... ORPHA:99776
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Multiple joint contractures, Small for gestational age, Short s... ORPHA:464306
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Chiari malformation,... OMIM:271510
Short Stature, Developmental Delay, And Congenital Heart Defects
Proportionate short stature, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity ... OMIM:617044
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Dysphagia, Abnormal skeletal muscle morphology, Weight loss ORPHA:142
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Dispropor... OMIM:224300
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Saul-Wilson Syndrome
Short stature, Spinal cord compression, Hypoplasia of the odontoid process, Postnatal growth reta... OMIM:618150
Spondylometaphyseal Dysplasia, Kozlowski Type
Waddling gait, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion cont... OMIM:184252
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Hypotonia, Growth delay, Sparse bone trabeculae, Genera... OMIM:600081
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Paresthesia, Thin bony cortex ORPHA:75508
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Growth delay, Generalized hypotonia, Abnormal re... ORPHA:3306
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Autophagic vacuoles, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,... OMIM:164310
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Self-mutilation OMIM:308950
Celiac Disease, Susceptibility To, 1
Ataxia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed ... OMIM:212750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Dystonia, Aggressive behavior, Flexion contracture, Ragged-red muscle fi... ORPHA:17
Neu-Laxova Syndrome 2
Intrauterine growth retardation, High palate, Cleft palate, Spina bifida OMIM:616038
Kleefstra Syndrome
Short stature, Aggressive behavior, Self-mutilation, Obesity, Hypotonia, Macroglossia, Self-injur... ORPHA:261494
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia ORPHA:2839
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short stature, Short neck, Obesity, Irregular vertebral endplates, Platyspondyly, Delayed ossific... OMIM:618395
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Houge-Janssens Syndrome 3
Hypotonia, Self-injurious behavior, Hypoplasia of the brainstem, Attention deficit hyperactivity ... OMIM:618354
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... OMIM:313400
Bruck Syndrome
Short stature, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita ORPHA:2771
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Rift Valley Fever
Back pain, Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Irregularity of vertebral bodies, Hyperactivity, Short ... ORPHA:580
Phelan-Mcdermid Syndrome
Sacral dimple, Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, ... OMIM:606232
Erdheim-Chester Disease
Increased bone mineral density, Ataxia, Abnormal cerebellum morphology, Osteolysis, Weight loss, ... ORPHA:35687
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel... OMIM:610188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Failure to thrive in infancy, Cachexia ORPHA:37042
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Exaggerated startle response, Dystonia, Hypoplastic vertebral bodies, M... ORPHA:79255
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cere... OMIM:615846
22Q11.2 Duplication Syndrome
Hypotonia, Growth delay, Attention deficit hyperactivity disorder, Compulsive behaviors, Scoliosi... ORPHA:1727
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Spina bifida, Hyperlordosis, Proportionate short statur... OMIM:234100
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Median cleft palate ORPHA:1827
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, A... ORPHA:353281
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossificati... ORPHA:93360
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Weight loss ORPHA:30925
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Hypotonia, Growth delay, Sparse bone trabeculae, Diffic... OMIM:241530
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Aganglionic megacolon, Failure to thrive in infancy, Kyphoscoliosis, Sho... ORPHA:798
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss ORPHA:100024
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Torticollis, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid vertebral ... ORPHA:536467
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyper... ORPHA:324964
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Postnatal growth retardation, Abnormal repetitive mannerisms, Generalized hypotonia ORPHA:529965
2Q37 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Hypotonia, Compulsive behavi... ORPHA:1001
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiphyses o... OMIM:226980
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... ORPHA:93315
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o... OMIM:184100
Poems Syndrome
Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Weight loss, Sclerosis of skull base... ORPHA:2905
Hirschsprung Disease
Aganglionic megacolon, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Alveolar Echinococcosis
Low back pain, Ataxia, Bone cyst, Abnormal skeletal muscle morphology, Weight loss, Hemiparesis, ... ORPHA:284
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Impaired pain sensation, Kyphosis, Scoliosis, Decreased body weight, Attentio... OMIM:619005
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Platyspondyly, Disproportionat... OMIM:602557
Myhre Syndrome
Vertebral fusion, Ataxia, Small for gestational age, Short stature, Short neck, Generalized muscl... OMIM:139210
Multiple Myeloma
Osteopenia, Spinal cord compression, Weight loss, Paresthesia, Vertebral compression fracture, Ta... ORPHA:29073
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Gliosis, Agitation, Disinhibition, ... OMIM:607485
Brucellosis
Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Chorea, Weight... ORPHA:1304
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Hypotonia, Growth delay, Sparse bone trabeculae, Genera... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Hypotonia, Growth delay, Sparse bone trabeculae, Genera... OMIM:277440
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Hypotonia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion, Sp... ORPHA:134
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment OMIM:609242
Pilarowski-Bjornsson Syndrome
Speech apraxia, Postnatal growth retardation, Abnormal repetitive mannerisms, Hypotonia OMIM:617682
Inhalational Botulism
Paralysis ORPHA:254504
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Hypotonia, Self-injurious behavior, Scoliosis, Abnormal tempe... ORPHA:449291
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Sho... OMIM:223800
Proteus Syndrome
Decreased muscle mass, Cachexia, Craniosynostosis, Kyphosis, Abnormal form of the vertebral bodie... ORPHA:744
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, ... ORPHA:3412
Pitt-Hopkins Syndrome
Sacral dimple, Incoordination, Short neck, Hypotonia, Gait ataxia, Self-injurious behavior, Scoli... OMIM:610954
Eosinophilic Fasciitis
Myositis, Muscular edema, Paresthesia, Weight loss ORPHA:3165
Gitelman Syndrome
Salt craving, Paralysis, Rhabdomyolysis, Paresthesia, Delayed puberty, Polydipsia, Failure to thrive ORPHA:358
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Small for gestational age, Decreased muscle mass,... OMIM:194190
Rhabdoid Tumor
Hemiplegia, Cerebral palsy, Weight loss ORPHA:69077
Developmental And Epileptic Encephalopathy 2
Inability to walk, Hypotonia, Myoclonus, Generalized hypotonia, Scoliosis, Abnormal repetitive ma... OMIM:300672
Juvenile Polyposis Of Infancy
Generalized hypotonia, Short stature, Cachexia ORPHA:79076
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Hyperactivity, Small for gestational age, Short stature, Craniosynostosi... OMIM:309590
Ataxia-Telangiectasia
Dystonia, Ataxia, Short stature, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Prog... OMIM:208900
Prader-Willi Syndrome Due To Translocation
Neonatal hypotonia, Short stature, Severe muscular hypotonia, Short neck, Obesity, Head-banging, ... ORPHA:177907
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Short stature, Kyphoscoliosis, Hypotonia, Advanced ossification of carpal bones, Cerv... OMIM:615349
Geroderma Osteodysplasticum
Osteopenia, Severe short stature, Kyphoscoliosis, Vertebral compression fracture, Osteoporosis, I... OMIM:231070
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Cervical hemivertebrae, Short stature, Optic nerve hypoplasia, Facial palsy, ... ORPHA:508498
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Lynch Syndrome
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hypotonia, Weight loss, Hyp... ORPHA:144
Osteopetrosis, Autosomal Recessive 3
Short stature, Optic nerve compression, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259730
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Primrose Syndrome
Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Reduced bone mineral dens... OMIM:259050
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia OMIM:613776
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebral space, Spastic dipl... OMIM:607944
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Short stature, Oculomotor apraxia, Hypotonia, Molar tooth sign on M... OMIM:619476
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Short stature, Small for gestational age, Platyspondyly, Decreased calvar... OMIM:616229
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Growth delay, A... ORPHA:251071
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Hypotonia, Weight loss, Hyp... ORPHA:440437
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Microsporidiosis
Anorexia, Myositis, Cachexia, Weight loss ORPHA:2552
Spondylometaphyseal Dysplasia, Sedaghatian Type
Disproportionate short stature, Rhizomelic arm shortening, Platyspondyly, Cerebellar hypoplasia, ... ORPHA:93317
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Anal atresia ORPHA:93929
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Occip... OMIM:601707
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Severe short stature, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Spinal cord compression... OMIM:271640
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Hypotonia, Gait ataxia, Lower-limb joint contra... ORPHA:513456
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Abnormal midbrain morphology, Impaired pain sensation, Aggressive behavior, Delaye... ORPHA:293987
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Pleural Mesothelioma
Dysphagia, Weight loss ORPHA:50251
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Coffin-Siris Syndrome 12
Short stature, Facial palsy, Abnormal repetitive mannerisms, Noncommunicating hydrocephalus, Hypo... OMIM:619325
Giant Cell Arteritis
Ataxia, Anorexia, Optic atrophy, Weight loss, Paresthesia ORPHA:397
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Wiedemann-Steiner Syndrome
Hyperactivity, Sacral dimple, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth re... ORPHA:319182
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial septal defect, Occipital me... OMIM:616546
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Broad-based gait, Optic nerve hypo... OMIM:620330
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart ORPHA:991
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the ... ORPHA:2020
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Facial palsy, Hyperlordosis, Abnormal repetitive mannerisms, Obesit... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Axial hypotonia, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Hypotonia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Codas Syndrome
Short stature, Hypoplasia of the odontoid process, Hypotonia, Coronal cleft vertebrae, Lumbar sco... OMIM:600373
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration, Gait disturba... ORPHA:183
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Weight loss ORPHA:1164
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Mucolipidosis Type Ii
Hip contracture, Axial hypotonia, Short stature, Diastasis recti, Craniosynostosis, Postnatal gro... ORPHA:576
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Spastic hemiparesis, Hypotonia, Weight loss, Myoclonus, Spasticity ORPHA:20
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Clonus, Hair-pulling, Hypotoni... ORPHA:447997
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal c... ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Ataxia, Short stature, Short neck, Hypotonia, Cerebral atrophy, Advanced ossification of carpal b... OMIM:610442
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Ataxia, Hypotonia, Weight loss, Lower-limb joint contracture, Aprax... ORPHA:99885
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Williams-Beuren Syndrome
Osteopenia, Incoordination, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Flexion ... OMIM:194050
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Cardiac rhabdomyoma, ... OMIM:109400
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Hypotonia, Growth delay, Hypertonia, Sco... ORPHA:1199
Takayasu Arteritis
Anorexia, Weight loss ORPHA:3287
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Lathosterolosis
Intrauterine growth retardation, Meningocele, High palate ORPHA:46059
Phocomelia, Schinzel Type
High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Intrauterine growth re... ORPHA:2879
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Polymyositis
Anorexia, Abnormal muscle fiber morphology, Hypotonia, Weight loss, Gait disturbance ORPHA:732
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Craniosynostosis ORPHA:397612
Immunodeficiency 27A
Anorexia, Weight loss OMIM:209950
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Multiple joint contractures, Short stature, Short neck, Growth delay, Irregular ve... ORPHA:99646
Kleefstra Syndrome 1
Aggressive behavior, Obesity, Hypotonia, Macroglossia, Compulsive behaviors, Generalized hypotoni... OMIM:610253
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Shor... OMIM:256520
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Occipit... OMIM:277170
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... OMIM:192350
Hypercalcemia, Infantile, 1
Failure to thrive, Hypotonia, Weight loss OMIM:143880
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Pos... OMIM:309000
Nail-Patella Syndrome
Cleft palate, Spina bifida OMIM:161200
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroc... ORPHA:84
Follicular Lymphoma
Weight loss ORPHA:545
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Secondary Short Bowel Syndrome
Aganglionic megacolon, Weight loss, Growth delay, Failure to thrive, Polyphagia ORPHA:95427
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl... OMIM:618019
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hy... OMIM:300554
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Shoulder flexion co... OMIM:210710
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Axial hypotonia, Congenital diaphragmatic hernia, Spastic tetraparesis, Growth delay, Hypertonia,... OMIM:301044
Jacobsen Syndrome
Ventricular septal defect, Intestinal malrotation, Spina bifida, Pyloric stenosis, Duodenal atres... ORPHA:2308
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Aganglionic megacol... ORPHA:567
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Hypotonia, Growth... ORPHA:2273
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Aggressive Systemic Mastocytosis
Osteoporosis, Osteolysis, Anorexia, Weight loss ORPHA:98850
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hydrocephalus, Optic atrophy, Growth delay, Osteopetrosis, G... OMIM:612301
Riddle Syndrome
Short stature, Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination ORPHA:420741
Tyrosinemia, Type I
Growth delay, Hypophosphatemic rickets, Failure to thrive, Periodic paralysis OMIM:276700
Leishmaniasis
Anorexia, Weight loss ORPHA:507
Acrodermatitis Enteropathica
Short stature, Anorexia, Weight loss, Failure to thrive, Cerebral cortical atrophy ORPHA:37
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Short stature, Small for gestational... ORPHA:221008
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Flexion contracture, Chiari type I malformation, Abnormal repetitiv... ORPHA:261537
Osteogenesis Imperfecta, Type Viii
Osteopenia, Kyphosis, Platyspondyly, Decreased calvarial ossification, Disproportionate short-lim... OMIM:610915
Sponastrime Dysplasia
Lumbar hyperlordosis, Small for gestational age, Rhizomelia, Kyphoscoliosis, Delayed epiphyseal o... ORPHA:93357
Focal Myositis
Myositis, Weight loss ORPHA:48918
Pfapa Syndrome
Weight loss ORPHA:42642
Arboleda-Tham Syndrome
Axial hypotonia, Dystonia, Craniosynostosis, Abnormal repetitive mannerisms, Optic atrophy, Hypot... OMIM:616268
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Oculocerebrorenal Syndrome Of Lowe
Neonatal hypotonia, Short stature, Clonus, Osteomalacia, Kyphosis, Self-injurious behavior, Platy... ORPHA:534
Hydroxykynureninuria
Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Transketolase Deficiency
Proportionate short stature, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity ... ORPHA:488618
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Osteoporosis, Weight loss, Delayed puberty, Periodic hypokalemic paresis ORPHA:91347
Mast Cell Sarcoma
Weight loss ORPHA:66661
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Dent Disease 1
Short stature, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Th... OMIM:300009
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Short sta... ORPHA:2909
Familial Glucocorticoid Deficiency
Anorexia, Tetraplegia, Weight loss, Failure to thrive, Tall stature ORPHA:361
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormality of the diaphragm, Bone cyst, Weight loss ORPHA:400
Osteosarcoma
Osteolysis, Weight loss ORPHA:668
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Weight loss ORPHA:171876
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Bifid uvula, Spina bifida OMIM:619480
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Flexion contracture, Chiari type I malformation, Abnormal repetitiv... ORPHA:261552
Ogden Syndrome
Torticollis, Short stature, Short neck, Postnatal growth retardation, Hypotonia, Cerebral atrophy... OMIM:300855
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... OMIM:610828
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, ... OMIM:219800
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Weight loss, Carcinoid tumor, Neuroendocrine neoplasm ORPHA:97289
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft pal... OMIM:274000
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Spinal cord compression, Hypoplasia of the odontoid process, Atlantoaxial instability... OMIM:271665
Degcags Syndrome
Osteopenia, Sacral dimple, Small for gestational age, Craniosynostosis, Oral-pharyngeal dysphagia... OMIM:619488
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Short sta... ORPHA:221016
Mowat-Wilson Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Aganglionic megaco... ORPHA:2152
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Short stature, Kyphoscoliosis, Kyphosis, Osteoporosis, Hypotonia, Platyspondyly, Scol... OMIM:259770
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Osteoporosis, Weight loss ORPHA:465508
Kaposi Sarcoma
Weight loss ORPHA:33276
Aspartylglucosaminuria
Short stature, Kyphosis, Hypotonia, Cerebral atrophy, Spasticity, Macroglossia, Platyspondyly, Sp... OMIM:208400
Igg4-Related Aortitis
Low back pain, Weight loss ORPHA:449400
Systemic Lupus Erythematosus
Chorea ORPHA:536
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss ORPHA:1302
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Axial hypotonia, Hypotonia, Obesity, Scoliosis, Difficulty walking, Abnormal repetitive mannerisms OMIM:618653
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Solitary Fibrous Tumor
Hypophosphatemic rickets, Low back pain, Weight loss ORPHA:2126
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Optic atrophy, Flexion contracture of the 2nd finger, Joint cont... ORPHA:324540
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormal heart morphology... OMIM:114290
Felty Syndrome
Osteolysis, Weight loss ORPHA:47612
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Chronic Beryllium Disease
Weight loss ORPHA:133
Al Amyloidosis
Weight loss, Macroglossia, Abnormal autonomic nervous system physiology, Dysphagia, Postural hypo... ORPHA:85443
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Failure to thrive, Anorexia, Weight loss, Generalized bone demineralization ORPHA:199299
Aicardi Syndrome
Cleft palate, Spina bifida, Hiatus hernia OMIM:304050
Knobloch Syndrome 1
Occipital encephalocele, Pyloric stenosis, Patent ductus arteriosus, Occipital meningocele, Spina... OMIM:267750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Tethered cord, Short stature, Hypotonia, Dysphagia, Growth delay, A... OMIM:619522
Loeffler Endocarditis
Left ventricular hypertrophy, Weight loss ORPHA:75566
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Hyperlordosis, Hypotonia, Obesity, Abnormal repetitive mannerisms OMIM:301066
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Congenital Tufting Enteropathy
Failure to thrive, Optic disc coloboma, Weight loss ORPHA:92050
Behçet Disease
Myositis, Ataxia, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait ... ORPHA:117
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, High, narrow palate, Patent ductus arteriosus, Cleft pal... OMIM:180849
Neuroendocrine Tumor Of The Colon
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Eosinophilic Gastroenteritis
Dysphagia, Weight loss ORPHA:2070
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Short stature, Weight loss, Growth delay, Delayed puberty OMIM:614162
Medullary Thyroid Carcinoma
Pheochromocytoma, Dysphagia, Weight loss ORPHA:1332
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Acute Adrenal Insufficiency
Orthostatic hypotension, Salt craving, Anorexia, Hypotonia, Weight loss, Delayed puberty, Failure... ORPHA:95409
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Refractory Celiac Disease
Osteoporosis, Weight loss ORPHA:398063
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Carcinoid tumor, Anorexia, Neuroendocrine neoplasm ORPHA:100085
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Neuroendocrine Tumor Of The Rectum
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Acute Monoblastic/Monocytic Leukemia
Anorexia, Weight loss ORPHA:514
Bronchial Neuroendocrine Tumor
Weight loss, Anorexia, Pulmonary carcinoid tumor ORPHA:97287
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Cap Polyposis
Weight loss ORPHA:160148
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Bullous Pemphigoid
Weight loss ORPHA:703
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Axial hypotonia, Short neck, Tremor, Hypotonia, Truncal obesity, Self-injurious behavior, Scolios... OMIM:612474
Exstrophy-Epispadias Complex
Anal stenosis, Spina bifida, Hydrocephalus, Abnormal heart morphology, Anal atresia ORPHA:322
Yao Syndrome
Weight loss OMIM:617321
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Flexion contracture, Abnormality of the cervical spine, Weight... ORPHA:85408
Tropical Endomyocardial Fibrosis
Myocardial calcification, Cachexia ORPHA:75565
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Juvenile Dermatomyositis
Calcinosis, Myositis, Hypotonia, Weight loss, Dysphagia ORPHA:93672
Multiple Endocrine Neoplasia Type 1
Anorexia, Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Osteolysis, Pulmonar... ORPHA:652
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy, Weight loss ORPHA:85450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Hypotonia, Reduced bone mineral density, Scoliosis, Loss of ambulation, Abnormal r... OMIM:616682
Addison Disease
Orthostatic hypotension, Salt craving, Anorexia, Weight loss, Generalized bone demineralization, ... ORPHA:85138
Igg4-Related Thyroid Disease
Vocal cord paralysis, Dysphagia ORPHA:64744
Neuroendocrine Tumor Of Stomach
Anorexia, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor, Carcinoid tumor ORPHA:100075
Imerslund-Gräsbeck Syndrome
Failure to thrive, Hypotonia, Weight loss ORPHA:35858
Thymoma
Myositis, Weight loss ORPHA:99867
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Cleft palate, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Anorexia, Weight loss ORPHA:49041
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pancreatic endocrine tumor, Osteoporosis, Increased body weight, Pulmonary carcinoid tu... ORPHA:99889
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Hypotonia, Sparse bone trabeculae, Thin b... ORPHA:1652
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Weight loss ORPHA:98849
Nephroblastoma
Weight loss ORPHA:654
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Pneumocystosis
Weight loss ORPHA:723
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Rickets, Osteoporosis, Weight loss, Growth delay ORPHA:309031
Anemia, Congenital Dyserythropoietic, Type Iv
Short stature, Weight loss OMIM:613673
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Polycythemia Vera
Myelofibrosis, Weight loss ORPHA:729
Familial Pancreatic Carcinoma
Back pain, Anorexia, Weight loss ORPHA:1333
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Dysphagia, Weight loss ORPHA:1018
Pemphigus Vulgaris
Weight loss ORPHA:704
Q Fever
Anorexia, Weight loss ORPHA:781
Carney-Stratakis Syndrome
Dysphagia, Paraganglioma, Weight loss ORPHA:97286
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Weight loss ORPHA:50918
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Generalized amyotrophy, Weight loss ORPHA:171
Pmm2-Cdg
Osteopenia, Cerebellar vermis hypoplasia, Ataxia, Multiple joint contractures, Kyphoscoliosis, Ab... ORPHA:79318
Rat-Bite Fever
Back pain, Tendonitis, Weight loss ORPHA:31205
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia, Weight loss ORPHA:537
Budd-Chiari Syndrome
Weight loss ORPHA:131
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Weight loss ORPHA:100086
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Hermansky-Pudlak Syndrome
Anorexia, Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Dysphagia, Weight loss ORPHA:36426
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss ORPHA:71273
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Castleman Disease
Myelofibrosis, Weight loss ORPHA:160
Parathyroid Carcinoma
Polydipsia, Osteoporosis, Dysphagia, Weight loss ORPHA:143
Sarcoidosis, Susceptibility To, 1
Anorexia, Bone cyst, Optic neuropathy, Weight loss OMIM:181000
Grfoma
Anorexia, Pheochromocytoma, Intestinal carcinoid, Weight loss ORPHA:97261
Hutchinson-Gilford Progeria Syndrome
Weight loss, Reduced bone mineral density, Progressive clavicular acroosteolysis, Osteolytic defe... ORPHA:740
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss ORPHA:900
Ppoma
Anorexia, Intestinal carcinoid, Weight loss ORPHA:97278
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Vipoma
Ganglioneuroma, Anorexia, Weight loss ORPHA:97282
Postinfectious Vasculitis
Weight loss, Anorexia, Abnormality of the peripheral nervous system ORPHA:48435
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Osteomalacia, Weight loss ORPHA:3337
Dermatomyositis
Inflammatory myopathy, Hypotonia, Weight loss ORPHA:221
Zollinger-Ellison Syndrome
Weight loss, Neuroendocrine neoplasm, Glucagonoma ORPHA:913
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Optic nerve compression, Abnormality of the extraocular muscles, Weight loss ORPHA:79078
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100078
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, High palate, Narrow palate OMIM:276820
Klatskin Tumor
Weight loss ORPHA:99978
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Short stature, Tall stature, Weight loss ORPHA:90794
Somatostatinoma
Anorexia, Weight loss ORPHA:97283
Glucagonoma
Anorexia, Weight loss ORPHA:97280
Pulmonary Alveolar Microlithiasis
Stippled calcification in carpal bones, Weight loss ORPHA:60025
Pyomyositis
Myositis, Weight loss ORPHA:764
Nocardiosis
Anorexia, Weight loss ORPHA:31204
Sarcoidosis
Bone cyst, Facial palsy, Weight loss ORPHA:797
Reactive Arthritis
Weight loss ORPHA:29207
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Anorexia, Weight loss OMIM:619381
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Anorexia, Weight loss ORPHA:91500
Chronic Graft Versus Host Disease
Flexion contracture, Dysphagia, Anorexia, Weight loss ORPHA:99921
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Tropical Pancreatitis
Weight loss ORPHA:103918
Malt Lymphoma
Weight loss ORPHA:52417
Pancreatoblastoma
Weight loss ORPHA:677
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
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 Hgs

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 Hgs.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Axonal transport of Hrs is activity dependent and facilitates synaptic vesicle protein degradation. Life science alliance (May 2022) Hgstm1a(EUCOMM)Wtsi PMC9152131
Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease. The Journal of neuroscience : the official journal of the Society for Neuroscience (May 2022) Hgstm1a(EUCOMM)Hmgu PMC9233440
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Disease models & mechanisms (August 2016) Hgsnattm1a(EUCOMM)Wtsi PMC5047683

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hgstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hgstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hgstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hgstm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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