Gene Summary

xylulokinase homolog (H. influenzae)

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
increased bone mineral density Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.65×10-09
tremors Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 9.11×10-06
increased bone mineral content Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.54×10-10
increased total body fat amount Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.43×10-06
decreased prepulse inhibition Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.76×10-05
abnormal bone mineralization Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.16×10-07
increased startle reflex Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 4.63×10-06
decreased lactate dehydrogenase level Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.88×10-05
decreased circulating alkaline phosphatase level Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.03×10-10
abnormal tail movements Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 2.07×10-06
increased lean body mass Xylbtm1a(EUCOMM)Hmgu HOM Early adult 1.06×10-10
abnormal bone structure Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.18×10-05
abnormal startle reflex Xylbtm1a(EUCOMM)Hmgu HOM Early adult 6.70×10-07
increased heart weight Xylbtm1a(EUCOMM)Hmgu HOM Early adult 8.61×10-06
abnormal response to new environment Xylbtm1a(EUCOMM)Hmgu HOM   Early adult 1.96×10-06
abnormal response to tactile stimuli Xylbtm1a(EUCOMM)Hmgu HOM Early adult 2.52×10-08

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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 Xylb 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 Xylb by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia, Flexion contracture OMIM:611105
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... OMIM:619491
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... ORPHA:309169
Buschke-Ollendorff Syndrome
Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Abnormal heart morphology, Myoclonus, Tremor, Abnormality of ex... ORPHA:79262
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density, Spastic paraplegia OMIM:250500
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Ataxia, Dementia, Osteoporosis, Incr... OMIM:136300
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Memory impairment, Depression, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Cognitive impai... ORPHA:401901
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Osteopenia, Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemi... ORPHA:716
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Increased bone mineral density OMIM:166450
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Increased bone mineral density OMIM:265880
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... ORPHA:216873
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Emotional lability, Tremor, Gait ataxia, ... OMIM:615362
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp OMIM:159900
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sig... OMIM:615924
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Migraine, Familial Hemiplegic, 1
Confusion, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Depression, Memory impairment, Athetosis, Bradykinesia, Chorea, Limb dysmet... OMIM:213600
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density wi... ORPHA:94089
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Confusion, Hypocalcemia, ... ORPHA:36913
Huntington Disease-Like 2
Depression, Memory impairment, Bradykinesia, Chorea, Action tremor, Irritability, Rigidity, Weigh... OMIM:606438
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... OMIM:261630
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Multiple joint contractures, Tremor, Ankle clonus, Babinski sign, Parki... ORPHA:521406
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Tremor, Irritability, Dysmetria, Babinski ... OMIM:618093
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy, Myoclonus, Tremor, Dystonia OMIM:619651
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsoni... ORPHA:314632
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Axial dystonia, Dysmetria, Parkinsonism, Dementia, Dysdia... OMIM:604326
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy, Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia OMIM:109130
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Increased intramuscular fat, Tremor, Elevated circulating ... ORPHA:276435
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower ... ORPHA:251282
Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnor... ORPHA:3124
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:614018
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment, Truncal ataxia OMIM:615768
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Cogwheel rigidity, Gai... OMIM:128230
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Park... OMIM:260300
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, B... OMIM:611302
Progressive Supranuclear Palsy-Corticobasal Syndrome
Mental deterioration, Involuntary movements, Memory impairment, Limb myoclonus, Progressive extra... ORPHA:240103
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Hemiballismus, Tremor ORPHA:494526
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:605909
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil... ORPHA:210110
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Cognitive ... OMIM:617284
Developmental And Epileptic Encephalopathy 68
Spasticity, Failure to thrive, Myoclonus, Clonus, Exaggerated startle response, Flexion contracture OMIM:618201
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... ORPHA:101110
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Limb dystonia, Tremor, Ataxia OMIM:620270
Leukodystrophy, Hypomyelinating, 13
Ataxia, Spasticity, Failure to thrive, Irritability, Lower limb spasticity, Clonus, Joint contrac... OMIM:616881
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... OMIM:616053
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Bradykinesia, Limb dystonia, Tremor, Elevated circulating creat... OMIM:617013
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin... OMIM:606159
Glut1 Deficiency Syndrome 2
Splenomegaly, Tremor, Reduced haptoglobin level, Irritability, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Tremor, Babinski sign, Hypertonia, Flexion contracture OMIM:609260
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Emotional lability, Gait ataxia, Craniofacial dystonia... ORPHA:71517
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Cognitive impairment, Progressive cerebell... ORPHA:98763
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Depression, Memory impairment, Bradykinesia, Tremor, Rigidity, Parkinsonism... ORPHA:240085
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Spasticity, Gait ataxia, Dysmetria, Tremor, Apraxia OMIM:617810
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Tetraparesis,... ORPHA:363400
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Failure to thrive, Pathologic fracture, Osteomyelitis, Hypocalcemia, Splenomega... OMIM:259700
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Tremor, Irritability, Rigidity, Parkinsonism, Hyperphenylalaninemia, Limb hypertoni... OMIM:261640
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Facial paralysis, Fractures of the long bones, Gene... OMIM:166600
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Dem... OMIM:159950
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Tremor, Elevated circula... OMIM:208920
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Arthritis ORPHA:37748
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment, Tremor ORPHA:79234
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Tremor, Dysmetria, Abnormality of extrapyramidal motor ... OMIM:164500
Sialidosis Type 2
Umbilical hernia, Splenomegaly, Tremor, Inguinal hernia, Ataxia, Hepatomegaly, Osteoporosis, Flex... ORPHA:87876
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia OMIM:618387
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Cognitive impairment, Motor deterio... ORPHA:79263
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Oculo... OMIM:617145
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Morgagni-Stewart-Morel Syndrome
Depression, Memory impairment, Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia, Cogni... ORPHA:77296
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures OMIM:611490
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Elevated circulating phytanic acid concentration, Increased phytanic acid... OMIM:614307
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Failure to thrive, Chorea, Short attention span, Irritability, Joint contracture, Exa... OMIM:617864
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Mental deterioration, Spasticity, Depression, Pill-rolling tremor, Re... OMIM:612953
Tay-Sachs Disease
Incoordination, Mania, Poor fine motor coordination, Depression, Memory impairment, Limited elbow... ORPHA:845
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Elevated circulating c... ORPHA:90117
Spinocerebellar Ataxia 18
Dysmetria, Tremor, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Spinocerebellar Ataxia With Epilepsy
Depression, Myoclonus, Gait ataxia, Tremor, Dysmetria, Hyperalaninemia, Progressive neurologic de... ORPHA:254881
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign... ORPHA:309246
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Depression, Progressive extrapyramidal muscular rigidity, Confusio... ORPHA:282166
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spasticity, Hype... OMIM:618598
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Irritability, Rigidity, Hepatomegaly, Dystonia OMIM:615010
Osteopenia, Failure to thrive, Tremor, Lipodystrophy, Oromotor apraxia ORPHA:300536
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Short attention span, Dysmetria, Tremor, Lower limb spasticity, Ataxia OMIM:619028
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Spasticity, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia, Osteoporosis ORPHA:529665
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Bradykinesia, Obesity, Emotional labilit... OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp... ORPHA:70594
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Splenomegaly, Synovitis,... ORPHA:77297
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Tremor OMIM:616269
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Chorea, Splenomegaly, Tremor, Elevated circulating creatine k... OMIM:615673
Spinocerebellar Ataxia 50
Memory impairment, Postural tremor, Head tremor, Chorea, Action tremor, Myoclonus, Apraxia, Ataxia OMIM:620158
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Tremor, Ataxia OMIM:278780
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait OMIM:600363
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Increased bone mineral density, Umbilical hernia, Joint hypermobility,... OMIM:614856
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb fasciculation... OMIM:615157
Sneddon Syndrome
Mental deterioration, Memory impairment, Chorea, Tremor, Hemiparesis, Dementia ORPHA:820
Perry Syndrome
Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Deme... ORPHA:178509
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Dilated cardiomyopathy, Resting tremor, Chorea, Myoclonus, Limb hypertonia... OMIM:606703
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dementia, Dystonia ORPHA:329284
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental enamel morpholog... ORPHA:1782
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Myoclonus, Tremor, Clumsiness, Eyelid myoclonus, Frequent f... ORPHA:2590
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly, Irritab... OMIM:259720
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Leukoencephalopathy With Calcifications And Cysts
Mental deterioration, Spasticity, Emotional lability, Tremor, Abnormal pyramidal sign, Cognitive ... ORPHA:542310
Gerstmann-Straussler Disease
Spasticity, Depression, Memory impairment, Limb ataxia, Myoclonus, Emotional lability, Tremor, Ri... OMIM:137440
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Neurodegeneration With Brain Iron Accumulation 7
Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased circulating very long-chain fatty aci... OMIM:617916
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... OMIM:613135
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Ankle clonus, Babinski sign, Exaggerated startle response, Flexion contracture OMIM:609541
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Hyperuricemia, ... OMIM:239000
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Hyperphosphatemia, Depression, Laryngeal dystonia, Hypocalcemic tetany, Obe... ORPHA:79444
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly ORPHA:88643
Pseudohypoparathyroidism Type 1A
Involuntary movements, Ectopic ossification, Hyperphosphatemia, Depression, Laryngeal dystonia, H... ORPHA:79443
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Gaucher Disease
Aortic valve calcification, Ataxia, Hepatomegaly, Elevated circulating C-reactive protein concent... ORPHA:355
Classic Phenylketonuria
Mental deterioration, Depression, Memory impairment, Hemiplegia, Paraplegia, Tremor, Attention de... ORPHA:79254
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign OMIM:610245
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Atax... OMIM:619738
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Mohr-Tranebjaerg Syndrome
Mental deterioration, Spasticity, Increased susceptibility to fractures, Tremor, Dystonia OMIM:304700
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Small for gestational age, Increased bone mineral density OMIM:616943
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Irritability, Rigidity, Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, P... OMIM:233910
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor, Irritability, Parkinsonism, Lowe... ORPHA:3077
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Conjugated hyperbilirubinemia OMIM:619232
Diastrophic Dysplasia
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger ORPHA:628
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Frontal lobe de... ORPHA:157846
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... ORPHA:93160
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Tremor, Bicuspid aortic valve, Atrial sep... OMIM:617744
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Spasticity, Craniofacial osteosclerosis, Increased skull ossification, Hypo... OMIM:618476
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Bab... OMIM:608643
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... ORPHA:53
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Depression, Generalized dystonia, Multiple joint contractures, Tremor, Babinski si... OMIM:128100
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Splenomegaly, Failure to thrive OMIM:615085
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ... ORPHA:199351
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Limited knee extension, Cognitive impairment, Ataxia, Bradykinesia, Poor ... ORPHA:36387
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Tremor, ... ORPHA:1170
Behr Syndrome
Frequent falls, Hamstring contractures, Tremor, Dysmetria, Babinski sign, Achilles tendon contrac... OMIM:210000
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Dementia, Bradykinesia, Postural tremor, Cogwheel rigidity, ... OMIM:600116
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomega... OMIM:259710
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Failure to thrive, Myoclonus, Ataxia, Hepatomegaly, Osteoporosis OMIM:560000
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Limitation of joint mobility, Tremor, Abnormal mitral valve morphology, Hypertonia, Progressive n... ORPHA:1192
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Dementia, Extrapyramidal muscular rigidity, Speech apraxia, ... ORPHA:99750
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Fasciculations, Tremor, Patent foramen ovale, Limb hypertonia, Atrial septal defect, Exaggerated ... OMIM:620327
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Joint stiffness, Fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:209335
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Splenomegaly ORPHA:882
Trisomy X
Depression, Tremor, Ventricular septal defect, Joint hypermobility, Attention deficit hyperactivi... ORPHA:3375
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, E... OMIM:614298
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi... OMIM:619424
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, Tremor, Hepatomegaly, Frequent falls OMIM:616719
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Progressive Supranuclear Palsy
Blepharospasm, Depression, Memory impairment, Bradykinesia, Emotional lability, Tremor, Irritabil... ORPHA:683
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... OMIM:272750
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Adult-Onset Distal Myopathy Due To Vcp Mutation
Progressive neurologic deterioration, Depression, Fasciculations, Tremor, Parkinsonism, Dementia,... ORPHA:329478
Neuronal Intranuclear Inclusion Disease
Tremor, Rigidity, Cognitive impairment, Ataxia, Dementia OMIM:603472
Pelizaeus-Merzbacher Disease
Ataxia, Mental deterioration, Spastic paraplegia, Depression, Failure to thrive, Generalized dyst... OMIM:312080
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Failure to thrive, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:211600
Ataxia With Vitamin E Deficiency
Mental deterioration, Hypertrophic cardiomyopathy, Tremor, Dysmetria, Hemiplegia/hemiparesis, Abn... ORPHA:96
Renal Tubular Acidosis Iii
Hypokalemia, Periodic paralysis, Rickets, Osteomalacia OMIM:267200
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia OMIM:213200
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Increased serum py... OMIM:619405
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia OMIM:260540
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... OMIM:264700
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Cranial hyperostosis, Tremor, Hyperkinetic movements, Overweight, Upper limb spasticity ORPHA:457240
Blepharospasm, Decreased circulating iron concentration, Ataxia, Memory impairment, Involuntary m... ORPHA:48818
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis OMIM:618049
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Mental deterioration, Tremor, Babinski sign, Spastic ataxia, Clums... ORPHA:137898
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia ORPHA:98764
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Depression, Memory impairment, Resting tremor, Dysdiadochokinesis, Postural... OMIM:300623
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae... OMIM:600081
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Leukodystrophy, Hypomyelinating, 11
Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia OMIM:616494
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Tremor, Dysme... ORPHA:397946
Pyruvate Dehydrogenase Deficiency
Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Mult... ORPHA:765
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Multiple joint contractures, Progressive spastic pa... ORPHA:320406
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Failure to thrive, Cardiomyopathy, Osteomalacia, Increa... ORPHA:289157
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Ingui... ORPHA:1901
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Irritability, Babinski sign, Limb hypertonia, Joint... ORPHA:35708
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive, Tremor ORPHA:94063
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Reduced bone mineral density, Tremor, Babinski sign ORPHA:83629
Osteopenia, Spasticity, Cardiomyopathy, Umbilical hernia, Gait ataxia, Multiple joint contracture... ORPHA:33364
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Cerebral palsy, Biventricular hypertrophy, Patent foramen ovale, Ventricular septal d... OMIM:615474
Gaucher Disease Type 3
Aortic valve calcification, Dementia, Abnormal heart valve morphology, Increased susceptibility t... ORPHA:77261
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Myoclon... ORPHA:101
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Irritability... OMIM:277440
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Dysmetria, Tremor, Joint hypermobility, Oculomo... OMIM:614867
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Parkins... OMIM:606693
4H Leukodystrophy
Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:289494
Sandhoff Disease
Ataxia, Spasticity, Progressive psychomotor deterioration, Fasciculations, Hepatosplenomegaly, Up... OMIM:268800
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... ORPHA:763
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Spastic paraparesis, Hemiplegia, Spastic diplegia, Emotional lability, Trem... ORPHA:206443
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dystonia, Tremor, Park... ORPHA:352649
Stiff-Person Syndrome
Depression, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls OMIM:184850
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Failure to thrive, Splenomegaly, Knee flexion contracture, Elevated ci... OMIM:608799
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Increased total iron binding capacity, Bradykinesia, Tremor, Rigidity, Abnor... OMIM:613280
Hyperekplexia 1
Umbilical hernia, Myoclonus, Inguinal hernia, Hypertonia, Exaggerated startle response, Frequent ... OMIM:149400
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Hypertonia, Exaggerated startle response OMIM:272800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypophosphatemic rickets, Sparse bon... OMIM:241530
Stiff Person Spectrum Disorder
Rigidity, Emotional lability, Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Werner Syndrome
Chondrocalcinosis, Slender build, Joint stiffness, Lipodystrophy, Osteoporosis, Lipoatrophy, Incr... ORPHA:902
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets, Failure to thrive OMIM:602722
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Hyperekplexia 2
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Depression, Tremor, Joint hypermobility, Hyperkinetic movements, Truncal obesity, Sma... OMIM:300957
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Confusion, Chorea, Cogwheel rigidity, Action tremor, Gait ataxi... OMIM:607483
Spasticity, Failure to thrive, Splenomegaly, Rigidity, Osteopetrosis, Hypertonia, Increased bone ... ORPHA:35107
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor, Elevated circulating creatine kinase concentration OMIM:619790
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Rickets, Failure to thrive OMIM:611590
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Attention deficit hyperactivi... OMIM:619725
Non-Specific Early-Onset Epileptic Encephalopathy
Mental deterioration, Spasticity, Involuntary movements, Failure to thrive, Abnormality of coordi... ORPHA:442835
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand tremor, Incoordination, Tremor, Dysmetria, Babinski sign, Paraparesis, Achilles tendon contr... OMIM:302800
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Cognitive impairment... ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dementia... OMIM:300894
Schwartz-Jampel Syndrome
Blepharospasm, Shoulder flexion contracture, Umbilical hernia, Joint stiffness, Inguinal hernia, ... ORPHA:800
Amish Nemaline Myopathy
Tremor, Shoulder flexion contracture, Hip contracture ORPHA:98902
Mohr-Tranebjaerg Syndrome
Mental deterioration, Generalized dystonia, Dementia, Tremor, Ankle clonus, Babinski sign, Attent... ORPHA:52368
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, ... ORPHA:2780
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ... ORPHA:1578
Poems Syndrome
Visceromegaly, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomeg... ORPHA:2905
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Decreased hip abduction, Shoulder flexion contracture, Hip contracture OMIM:605355
Sneddon Syndrome
Mental deterioration, Atrophic scars, Hemiplegia, Tremor, Bicuspid aortic valve OMIM:182410
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Joint hypermobility, Clonus, Hypertonia, Exaggerated ... OMIM:617301
Cystathioninemia, Tremor ORPHA:212
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia OMIM:607876
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Reduced subcutaneous adipose tissue, Cortical thickening ... OMIM:131300
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Flexion contracture... OMIM:616505
Leukodystrophy, Hypomyelinating, 6
Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Conjugated hyperbili... OMIM:607765
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Limb dystonia, Hepatomegaly, Decreased circulatin... OMIM:277900
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapyramidal muscular... ORPHA:53351
Sandhoff Disease, Infantile Form
Spasticity, Hepatosplenomegaly, Myoclonus, Mitral valve prolapse, Exaggerated startle response ORPHA:309155
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Hepatosplenomegaly, Osteopetrosis, Splenomegaly OMIM:612840
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Bradykinesia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, ... OMIM:618877
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia ORPHA:89937
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Cardiomyopathy, Confusion, Paraplegia, Limb ataxia, Tremor, Hemi... OMIM:105210
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Abnormal... OMIM:612716
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased body mass index, Memory impairment, Decreased HDL cholesterol c... ORPHA:247585
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Progressive extrapyramidal muscular rigidity, Bradykinesia, ... ORPHA:240071
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Enamel hypomineralization, H... OMIM:307800
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Dementia, Flexion contracture OMIM:278760
Joint contracture of the hand, Total anomalous pulmonary venous return, Abnormal circulating chol... OMIM:602398
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase, Arthritis ORPHA:397744
Congenital Bile Acid Synthesis Defect Type 4
Mental deterioration, Memory impairment, Depression, Tremor, Elevated circulating creatine kinase... ORPHA:79095
Perry Syndrome
Depression, Bradykinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Frontotemporal dementia, D... OMIM:168605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transposition of the ... OMIM:253800
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Depression, Chondrocalcinosis, Osteomalacia, Multiple lipomas, Hypophosphatemia,... OMIM:600740
Myopathy, Mitochondrial, And Ataxia
Depression, Limb ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, M... OMIM:617675
Osteopenia, Facial paralysis, Sclerosis of hand bone, Sclerosis of skull base, Increased suscepti... OMIM:224300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Hypophosphatemic rickets, Tremor... ORPHA:263455
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Failure to thrive, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous ... OMIM:227810
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Camptodactyly of finger, Carpal synostosis, Abnorm... ORPHA:90652
Stiff neck, Tremor, Rigidity, Elevated circulating creatine kinase concentration, Opisthotonus, H... ORPHA:3299
Erdheim-Chester Disease
Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve morphology, Weight loss, At... ORPHA:35687
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Abnormal pyramidal sign ORPHA:213
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Rigidity, Abnormality of extrapyramidal moto... OMIM:617527
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Depression, Dysdiadochokinesis, Tremor, Generalized joint hypermobility, Dysmetria, Lipoma, Mildl... ORPHA:502423
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... OMIM:127000
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Failure to thrive, Hyperbilirubinemia, Abnormal serum bile acid concentration, Hepatomeg... ORPHA:79303
Infantile Systemic Hyalinosis
Osteopenia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased ... ORPHA:2176
Celiac Disease, Susceptibility To, 1
Depression, Rickets, Failure to thrive, Hypocalcemia, Weight loss, Enamel hypoplasia, Ataxia, Ost... OMIM:212750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Large for gestational age, Hypophosphatemia, Hepatomegaly OMIM:616026
Parkinson Disease, Late-Onset
Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:168600
X-Linked Hypophosphatemia
Cellulitis, Rickets, Limitation of joint mobility, Generalized osteosclerosis, Hypophosphatemia, ... ORPHA:89936
Asparagine Synthetase Deficiency
Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Clonus, Limb hypertonia, Hypertonia, ... OMIM:615574
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Spasticity, Spastic gait, Dysdiadochokinesis, Tetraparesis, Gait atax... ORPHA:99027
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Hemiplegia, Gait ataxia, Dysmetria, Tremor, Hemiparesis, Apraxia OMIM:602481
Young-Onset Parkinson Disease
Spasticity, Depression, Bradykinesia, Frontal lobe dementia, Short attention span, Tremor, Rigidi... ORPHA:2828
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Diaphyseal... OMIM:259730
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Splenomegaly, Tremor, Emotional lability, Irritability, Decreased serum zinc, ... OMIM:201100
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Partial atrioventricular canal defect, Myoclonus, Irritability, Ankle clonus, Hy... OMIM:620423
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Contractures of the large joints, Rigidity, Abnormality of extrapyramidal moto... ORPHA:521426
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Tremor, Hypophosphatemia, Osteop... ORPHA:667
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration OMIM:176500
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Depression, Resting tremor, Failure to thrive, Cogwheel rigidity, Gait at... ORPHA:254892
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal dental enamel m... ORPHA:2658
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal... OMIM:616840
Fanconi-Bickel Syndrome
Osteopenia, Rickets, Failure to thrive, Hypophosphatemia, Hypertriglyceridemia, Hepatomegaly ORPHA:2088
Williams Syndrome
Synostosis of joints, Spasticity, Mitral valve prolapse, Ventricular septal defect, Radioulnar sy... ORPHA:904
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Elevated circulating creatine kinase conce... OMIM:606002
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Failure to thrive, Cardiomyopathy, Hypocholesterolemia, Tremor, Dysm... OMIM:212065
Raine Syndrome
Hypophosphatemia, Enamel hypoplasia, Subperiosteal bone formation, Increased bone mineral density... OMIM:259775
Neu-Laxova Syndrome
Osteopenia, Rickets, Osteomalacia, Opisthotonus, Osteoporosis, Flexion contracture, Arthrogryposi... ORPHA:2671
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones... ORPHA:249
Hypoornithinemia, Poor motor coordination, Failure to thrive, Short attention span, Hyperammonemi... ORPHA:2203
Pediatric-Onset Graves Disease
Failure to thrive, Splenomegaly, Tremor, Emotional lability, Irritability, Hyperkinetic movements... ORPHA:525731
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Mental deterioration, Spasticity, Pathologic fracture, Hemiplegia, Increased suscepti... OMIM:612199
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Ataxia, ... OMIM:614381
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response OMIM:608800
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Lipoatrophy, Chondrocalcinosis, Limitation of ... ORPHA:79474
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss, Periodic paralysis, Tremor OMIM:613239
Serotonin Syndrome
Mental deterioration, Confusion, Myoclonus, Tremor, Irritability, Rigidity, Clonus, Hypertonia, D... ORPHA:43116
Combined Oxidative Phosphorylation Deficiency 58
Myoclonus, Gait ataxia, Appendicular spasticity, Hyperprolinemia, Hyperalaninemia, Ataxia, Exagge... OMIM:620451
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Hypophosphatemic rickets, Rickets OMIM:612089
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Developmental And Epileptic Encephalopathy 49
Spasticity, Myoclonus, Facial-lingual fasciculations, Spastic tetraplegia, Exaggerated startle re... OMIM:617281
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Ataxia, D... ORPHA:25
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Alexander Disease
Osteopenia, Spasticity, Depression, Failure to thrive, Chorea, Emotional lability, Tremor, Abnorm... ORPHA:58
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Obesity, Inguinal hernia, Tremor, Ventricular septal defect, Ventricular septal h... OMIM:614947
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Spasticity, Cardiomyopathy, Hepatosplenomegaly, Exaggerated ... ORPHA:79255
Tick-Borne Encephalitis
Tongue fasciculations, Depression, Stiff neck, Incoordination, Speech apraxia, Tremor, Hyperkinet... ORPHA:297
Parkinson Disease 20, Early-Onset
Mental deterioration, Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dyston... OMIM:615530
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Coarse metaphyseal trabecularization, Ventricular septal defect, Thickened cortex of long bones, ... OMIM:620558
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly, H... OMIM:612301
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov... OMIM:610505
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Chorea, Tremor, Elevated circulating creatine kinase concentration, Hyperkinetic ... OMIM:615356
Niemann-Pick Disease Type C
Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal... ORPHA:646
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Mccune-Albright Syndrome
Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,... ORPHA:562
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Tetraparesis, Episodic hemiplegia, Chorea, Emotional lability,... ORPHA:2131
Infantile Nephropathic Cystinosis
Rickets, Failure to thrive, Hypokalemia, Hypophosphatemia, Cognitive impairment, Abnormal blood i... ORPHA:411629
Primary Hyperoxaluria
Failure to thrive, Cardiomyopathy, Hyperoxaluria, Generalized osteosclerosis, Recurrent fractures ORPHA:416
Intrahepatic Cholestasis Of Pregnancy
Depression, Hyperbilirubinemia, Tremor, Increased serum bile acid concentration, Small for gestat... ORPHA:69665
Autosomal Dominant Spastic Paraplegia Type 9A
Memory impairment, Spastic gait, Tremor, Babinski sign, Abnormal pyramidal sign, Dementia, Spasti... ORPHA:447753
Distal Renal Tubular Acidosis
Rickets, Failure to thrive, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Par... ORPHA:18
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Slender build, Hypocalcemia, Inguinal he... OMIM:613658
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Failure to thrive, Hypertrophic cardiomyopathy, Tremor, Irritability, Babinski sign, ... OMIM:616539
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Rickets, Failu... OMIM:309000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Decreased circulating iron concentration, Involuntary movements, Abnormal heart morph... ORPHA:438213
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Mental deterioration, Spasticity, Depression, Bradykinesia, Tremor, Rigidity, Abno... OMIM:234200
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Hypertrophic cardiomyopathy, Extrapyramidal muscular rigidity, H... ORPHA:51
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Lipoma, Hypocalcemic se... ORPHA:405
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Apparent Mineralocorticoid Excess
Hypokalemia, Left ventricular hypertrophy, Failure to thrive, Decreased circulating renin level ORPHA:320
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia OMIM:146500
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Atypical scarring of skin, Keloids, Rickets, Osteomalacia, Ingu... ORPHA:198
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Weight loss, Rickets, Osteomalacia ORPHA:309031
Sclerosteosis 1
Cortically dense long tubular bones, Cognitive impairment, Sclerotic scapulae, Facial palsy secon... OMIM:269500
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Tetraparesis, Hypocalcemia, Elevated circulating creatine kinase concentration... ORPHA:2785
Cystinosis, Nephropathic
Progressive neurologic deterioration, Decreased circulating carnitine concentration, Rickets, Fai... OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Depression, Failure to thrive, Osteomalacia, Abnormal dental enamel mo... ORPHA:534
Supranuclear Palsy, Progressive, 1
Memory impairment, Frontolimbic dementia, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Irr... OMIM:601104
Failure to thrive, Tremor, Hepatomegaly, Lipodystrophy, Emotional blunting, Ataxia, Camptodactyly... ORPHA:86309
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Periodic hypokalemic paresis, Hypomagnesemia, Obesity, Tremor, Respiratory ... ORPHA:79102
Neuroleptic Malignant Syndrome
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Extrapyramidal muscular rigidity, Chorea, H... ORPHA:94093
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Sclerosis of skull base, Opisthotonus, Thicke... OMIM:269150
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Irritability, Hypertonia, Exaggerated startle response OMIM:618367
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Thrombotic Thrombocytopenic Purpura, Hereditary
Confusion, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor OMIM:274150
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... OMIM:248250
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii