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Gene: Ptbp2 MGI:1860489

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Gene Summary

Name:
polypyrimidine tract binding protein 2
Synonyms:
brPTB

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
decreased total retina thickness Ptbp2em1(IMPC)Hmgu HET   Early adult 1.52×10-06
abnormal vibrissa morphology Ptbp2em1(IMPC)Hmgu HET Early adult 2.03×10-05
preweaning lethality, complete penetrance Ptbp2em1(IMPC)Hmgu HOM   Early adult 7.54×10-06
abnormal tooth morphology Ptbp2em1(IMPC)Hmgu HET Early adult 2.39×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Ptbp2 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 Ptbp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Death in infancy, Rigidity, Hypertonia, Respiratory failure OMIM:613869
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Death in infancy, Hypertonia, Respiratory failure OMIM:611722
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pontocerebellar Hypoplasia, Type 1C
Cerebral cortical atrophy, Tongue fasciculations, Respiratory insufficiency, Death in childhood, ... OMIM:616081
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp, Amelogenesis imperfecta ORPHA:79129
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Respiratory insufficiency ORPHA:640
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Cerebral atrophy, Ataxia OMIM:618637
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Respiratory failure, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Ceroid Lipofuscinosis, Neuronal, 10
Ataxia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Respiratory insufficiency, Rigidity, Ne... OMIM:610127
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Amyotrophic Lateral Sclerosis 28
Babinski sign, Chaddock reflex, Respiratory failure, Fasciculations OMIM:620452
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Eem Syndrome
Carious teeth, Selective tooth agenesis, Sparse body hair, Widely spaced teeth, Abnormal dental m... ORPHA:1897
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Hippocampal atrophy, Respiratory insuffi... OMIM:617892
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Cerebral atrophy, Myoclonus, Rigidity, Respiratory failure OMIM:619057
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Death in infancy, Hypertonia, Respiratory failure OMIM:225753
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Tetraparesis, Ankle clonus, Hemiparesis, Respiratory failure OMIM:600561
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Horner Syndrome, Congenital
Paralysis OMIM:143000
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Brain atrophy, Death in infancy, Atrophy/Degeneration affecting the brainstem, Respir... OMIM:616277
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia OMIM:610951
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis ORPHA:2375
Heimler Syndrome 1
Retinal pigment epithelial mottling, Leukonychia, Amelogenesis imperfecta, Enamel hypoplasia, Mac... OMIM:234580
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Cerebral atrophy OMIM:616286
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Ankle clonus, Babinski s... OMIM:613954
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Hyperekplexia 4
Myoclonus, Hypertonia, Respiratory failure, Cerebral atrophy OMIM:618011
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Myoclonus, Tremor, Clumsiness, Respiratory insufficiency due to muscle weakness, ... ORPHA:2590
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Gene... ORPHA:2222
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar flattening,... OMIM:616108
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Respiratory failure, Neuronal loss in central nervous system ORPHA:71211
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Lethal Congenital Contracture Syndrome 8
Vocal cord paralysis, Death in infancy, Neonatal death OMIM:616287
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, C... OMIM:617672
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Gait ataxia, Trem... ORPHA:363400
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia OMIM:615889
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Spastic paraplegia, Cerebellar atrophy, Neurodegeneration, Dysmetria, Ankle clonus, Babinski sign... OMIM:612319
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy alopecia, Enamel hypoplasia OMIM:226650
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Congenital Myopathy 10A, Severe Variant
Diaphragmatic paralysis, Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:614399
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Respiratory failure, Tremor, Respiratory failure requiring assisted ventilation ORPHA:90117
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Myoclonus, Respiratory failure, Hypertonia OMIM:618240
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Cerebral atrophy, Respiratory insufficiency due to muscle we... OMIM:611890
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Tongue fasciculations, Spasticity, Ataxia, Respiratory failure, Degene... ORPHA:2254
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro... OMIM:615157
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy, Respiratory insufficiency due to muscle weakness ORPHA:230800
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death OMIM:257100
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Variegate Porphyria
Paralysis OMIM:176200
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Chorea, Postural tremor, Dysme... ORPHA:98755
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exag... OMIM:272750
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Abnormality of retinal pigmentation, Supernumerary tooth, Oligodont... ORPHA:1264
Immunodeficiency 95
Respiratory failure OMIM:619773
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Retinal pigment epithelial mottling, Atte... OMIM:217080
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Spasticity, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Death in childhood, Babin... OMIM:615838
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79406
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Central nervous system degeneration ORPHA:868
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia,... OMIM:616505
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Death in childhood, D... OMIM:245400
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Myoclonus, Death in infancy, Abnormality of extrapyr... OMIM:605711
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal hair morphology, Abnormal dental morphology, Premature loss of prim... ORPHA:248
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Limb hypertonia, Cerebral atrophy, Neonatal death OMIM:615918
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Poor gross motor coordination, Respiratory failure, Respiratory insuff... ORPHA:370968
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Pili Torti
Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morph... ORPHA:2889
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Neurodegeneration, Rigidity, Bradykinesia, Spastic tetraplegia OMIM:615643
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Cerebral atrophy, Cerebral palsy, Myoclonus, Death in childhood, Opisthotonus, Babins... OMIM:619847
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Neurodegeneration, Babinski sign, Para... ORPHA:803
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Trichodental Dysplasia
Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Respiratory failure, Choreoathetosis OMIM:312170
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Axonal degeneration, Ventilator dependence with inability to wean, Diaphragmatic paralysis, Respi... OMIM:604320
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, P... OMIM:300894
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79405
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Spasticity, Cerebellar atrophy, Respiratory failure ORPHA:168486
Foodborne Botulism
Cardiorespiratory arrest, Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weak... ORPHA:228371
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Neurodegeneration, Fascic... OMIM:615491
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Cerebellar atrophy, Fasciculations, Tremor, Limb hypertonia, Exaggerat... OMIM:620327
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Spasticity, Respiratory failure, Death in infancy OMIM:610678
Heimler Syndrome 2
Leukonychia, Beau's lines, Dental crowding, Amelogenesis imperfecta OMIM:616617
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Neurodegeneration, Chorea, Tremor, Rigidity, Babinski sign, Parkinsoni... OMIM:606159
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, Cerebellar atrophy, Respiratory insufficiency, Neonatal death, Babinski sign, Respira... OMIM:618186
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Tongue fasciculations, Myoclonus, Death in childhood, Death in infancy... OMIM:614922
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Respiratory insufficiency, Myoclonus, Death in infancy, Abnormality of extrapyramidal... OMIM:614299
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Respiratory insufficiency, Vocal cord paralysis, Axonal degeneration OMIM:615490
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Spastic tetraplegia, Cerebral atrophy, Respiratory insufficiency OMIM:615330
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu... ORPHA:1811
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Tetraparesis, Death in childhood, Tremor, Rigidity, Torticollis, Ataxia, Re... OMIM:617186
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Brain atrophy OMIM:620326
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
3-Methylglutaconic Aciduria Type 7
Spasticity, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor ... ORPHA:445038
Leigh Syndrome, Nuclear
Respiratory insufficiency, Spasticity, Respiratory failure, Ataxia OMIM:256000
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Snakebite Envenomation
Respiratory paralysis, Paralysis, Respiratory failure, Pseudobulbar paralysis ORPHA:449285
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Machado-Joseph Disease Type 1
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276241
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Chorea, Respiratory failure, Ataxia ORPHA:70472
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro... ORPHA:251393
Alg1-Cdg
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:79327
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal motor... ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Hyperkalemic Periodic Paralysis
Cerebral palsy, Respiratory insufficiency, Periodic hyperkalemic paralysis, Fasciculations, Death... ORPHA:682
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Poor coordination, Respiratory failure, Cerebral atrophy OMIM:250940
Ullrich Congenital Muscular Dystrophy
Frequent falls, Respiratory failure, Torticollis ORPHA:75840
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Cardiomyopathy, Dilated, 2H
Cardiorespiratory arrest, Neonatal death OMIM:620203
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal... ORPHA:309246
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Dysmetria, Ataxia OMIM:618233
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Niemann-Pick Disease, Type C2
Spasticity, Neonatal respiratory distress, Cataplexy, Respiratory insufficiency, Death in childho... OMIM:607625
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Respiratory failure, Head titubation, Spastic tetraplegia ORPHA:3240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Respiratory failure, Frequent falls OMIM:606612
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Triosephosphate Isomerase Deficiency
Spasticity, Cerebral atrophy, Respiratory insufficiency, Tremor, Death in infancy, Death in adole... OMIM:615512
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Neuronal loss i... OMIM:256600
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Respiratory failure, Death in infancy ORPHA:1194
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti... OMIM:610217
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:265120
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Vocal cord paralysis, Frequent falls, Poor fine moto... ORPHA:99947
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Respiratory failure, Intercostal muscle weakness OMIM:606071
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Krabbe Disease
Neurodegeneration, Diffuse cerebral atrophy, Hypertonia, Decerebrate rigidity, Progressive spasti... OMIM:245200
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory insufficiency, Death in childhood, Ankle clonus, Clumsiness, V... OMIM:211530
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure OMIM:263000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Frequent falls, Respiratory failure OMIM:603689
Glioblastoma
Paralysis ORPHA:360
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cataplexy, Fasciculations, Tetraplegia... ORPHA:496641
Muscular Dystrophy, Congenital, With Or Without Seizures
Frequent falls, Respiratory failure, Ataxia OMIM:620166
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of dental color, Abnormal eyelas... ORPHA:1006
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Neurodegeneration, Diffuse ... ORPHA:391428
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Infantile Krabbe Disease
Spasticity, Myoclonus, Ankle clonus, Diffuse cerebral atrophy, Opisthotonus, Lower limb spasticit... ORPHA:206436
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Cherubism
Marcus Gunn pupil, Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge over... OMIM:118400
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Titubation, Respiratory failure, Ataxia ORPHA:280210
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Adrenoleukodystrophy
Spastic paraplegia, Neurodegeneration, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, ... OMIM:300100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Conical incisor, E... OMIM:614564
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Stillbirth OMIM:619751
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Tremor, Neonatal death, Respiratory arrest, Death in infancy, Clonus, Hypertoni... OMIM:617248
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebral cortical atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Carious teeth, Abnormality of the dentition, Sparse lateral eyeb... ORPHA:3253
Poliomyelitis
Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis, Respiratory failure, Respiratory ... ORPHA:2912
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... ORPHA:478029
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Neonatal inspiratory stridor ORPHA:684
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... OMIM:129400
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia, Respiratory insufficiency due to muscle weakness ORPHA:98897
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Lelis Syndrome
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Hypodontia,... ORPHA:140936
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Death in childhood, Respiratory insufficiency due to muscle weakness, Truncal ataxia, Res... OMIM:220110
Brain-Lung-Thyroid Syndrome
Involuntary movements, Neonatal respiratory distress, Incoordination, Chorea, Myoclonus, Intentio... ORPHA:209905
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Death in childhood, Diffuse cerebral atrophy, Brain atrophy OMIM:214150
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Respiratory failure OMIM:620296
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Mitochondrial Complex I Deficiency, Nuclear Type 32
Death in childhood, Respiratory failure, Cerebral atrophy OMIM:618252
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Hemiparesis, Rigidity, Paral... ORPHA:2396
Combined Oxidative Phosphorylation Deficiency 37
Spasticity, Cerebellar atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Multinucleated neuron, Stillbirth, Neonatal death OMIM:236500
Glycine Encephalopathy With Normal Serum Glycine
Clonus, Respiratory failure, Hypertonia, Exaggerated startle response OMIM:617301
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Poor gross motor coordination, Frequent falls, Poor fine motor coordination ORPHA:99948
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Cerebellar atrophy, Neurodegeneration, Tremor, Abnormality of extrapyramidal motor fu... OMIM:614298
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Limb hypertonia, Clonus, Hypertonia, Stillbirth, Respiratory failure, Spastic t... OMIM:259720
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure ORPHA:98913
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ... ORPHA:50814
Leigh Syndrome
Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Abnormality of extrapyramidal moto... ORPHA:506
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Death in childhood, Ataxia, ... OMIM:618321
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Sparse hair, Premature loss of teeth OMIM:616353
Inhalational Botulism
Paralysis ORPHA:254504
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Death in infancy, Neonatal death OMIM:616342
Mercury Poisoning
Respiratory failure, Tremor ORPHA:330021
Niemann-Pick Disease Type C
Cerebral atrophy, Cataplexy, Cerebellar vermis atrophy, Speech apraxia, Chorea, Respiratory insuf... ORPHA:646
Combined Oxidative Phosphorylation Deficiency 24
Neurodegeneration, Spasticity, Cerebellar atrophy, Neuronal loss in central nervous system OMIM:616239
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Myoclonu... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Tremor, Death in infancy, Ataxia, Respiratory failure OMIM:610505
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Neonatal respiratory distress, Intercostal muscle weakness, Respiratory in... ORPHA:70
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Tremor, Rigidity, Abn... OMIM:234200
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness ORPHA:600
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Frequent falls, Respiratory failure, Respiratory insufficiency ORPHA:746
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:610921
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Boutonneuse Fever
Respiratory failure ORPHA:83313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Speech apraxia, Hypertonia, Babinski sign ORPHA:79244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Gait ataxia OMIM:614895
Acute Lung Injury
Respiratory failure ORPHA:178320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Cerebellar atrophy, Respiratory insufficiency, Death in infanc... OMIM:252010
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death OMIM:616482
Cerebral Visual Impairment
Central nervous system degeneration, Cerebral palsy, Neurodegeneration, Clumsiness, Oculomotor ap... ORPHA:447788
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Brain atrophy, Myoclonus, Death in childhood, Tetraplegia, Respiratory... OMIM:618278
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Miscarriage ORPHA:319251
Bickerstaff Brainstem Encephalitis
Facial paralysis, Tetraparesis, Babinski sign, Abnormal pyramidal sign, Tetraplegia, Ataxia, Resp... ORPHA:79138
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Myoclonus, Vocal cord paralysis ORPHA:500144
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cerebral atrophy, Neurodegeneration, Gait ataxia, Clonus, Ataxia, Poor coordination, Spastic tetr... OMIM:616878
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Asbestos Intoxication
Respiratory failure ORPHA:2302
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Scedosporiosis
Respiratory failure ORPHA:449280
Bresek Syndrome
Hydrocephalus, Neonatal death ORPHA:85284
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure ORPHA:244
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations OMIM:619574
Staphylococcal Necrotizing Pneumonia
Respiratory failure ORPHA:36238
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor ORPHA:94080
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure ORPHA:542323
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Spasticity, Neurodegeneration, Rigidity, Ataxia, Spastic tetraplegia OMIM:618476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Spasticity, Death in infancy, Lower limb spasticity, Neuronal loss in ... OMIM:300868
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory failure, Intercostal muscle weakness, Pontocerebellar atrophy, Respiratory insufficiency ORPHA:258
Riddle Syndrome
Neonatal asphyxia, Poor hand-eye coordination, Clumsiness, Ataxia, Respiratory failure ORPHA:420741
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Ataxia-Telangiectasia-Like Disorder 2
Neurodegeneration, Cerebellar atrophy, Ataxia OMIM:615919
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, Paralysis ORPHA:297
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Vocal cord paresis, Cerebellar atrophy, Facial paralysis, Respiratory insu... ORPHA:99949
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Vocal cord paralysis, Poor fine motor coordination, Respiratory insufficiency ORPHA:99956
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Abetalipoproteinemia
Gait ataxia, Dysmetria, Babinski sign, Ataxia, Upper motor neuron dysfunction, Respiratory failure ORPHA:14
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Listeriosis
Myoclonus, Tremor, Hemiparesis, Ataxia, Respiratory failure, Miscarriage ORPHA:533
X-Linked Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Vocal cord paralysis, Respiratory insufficiency due to muscle weakness ORPHA:98853
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory failure, Respiratory insufficiency OMIM:610913
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Distal Renal Tubular Acidosis
Paralysis, Respiratory insufficiency due to muscle weakness ORPHA:18
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death OMIM:314390
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Joubert Syndrome 21
Oculomotor apraxia, Respiratory failure, Ataxia OMIM:615636
Malignant Atrophic Papulosis
Respiratory failure ORPHA:679
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, ... OMIM:617799
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
Boomerang Dysplasia
Neonatal death OMIM:112310
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hypertonia ORPHA:2072
Steinert Myotonic Dystrophy
Cerebral cortical atrophy, Respiratory insufficiency, Respiratory insufficiency due to muscle wea... ORPHA:273
Myhre Syndrome
Respiratory insufficiency, Respiratory failure, Ataxia OMIM:139210
Chediak-Higashi Syndrome
Neurodegeneration, Tremor, Ataxia OMIM:214500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Cerebral atrophy, Respiratory insufficiency OMIM:613658
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory failure, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency ORPHA:365
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor ORPHA:276621
African Trypanosomiasis
Involuntary movements, Fasciculations, Abnormal central motor function, Tremor, Hemiparesis, Para... ORPHA:3385
Bloom Syndrome
Respiratory failure ORPHA:125
Mucopolysaccharidosis, Type Ii
Neurodegeneration OMIM:309900
Congenital Fiber-Type Disproportion Myopathy
Respiratory failure, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:2020
Arnold-Chiari Malformation Type I
Babinski sign, Gait ataxia, Vocal cord paralysis, Progressive cerebellar ataxia ORPHA:268882
Pineoblastoma
Paralysis ORPHA:251909
Fraser Syndrome 2
Respiratory failure OMIM:617666
Pulmonary Alveolar Microlithiasis
Respiratory failure, Respiratory insufficiency ORPHA:60025
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
Costello Syndrome
Respiratory failure, Cerebral atrophy, Respiratory insufficiency OMIM:218040
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Cerebral palsy, Neurodegeneration, Spastic diplegia, Intention tremor, Progressive sp... OMIM:619475
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Spasticity, Respiratory failure, Hypertonia, Rigidity ORPHA:2636
Gitelman Syndrome
Paralysis ORPHA:358
Hurler Syndrome
Neurodegeneration OMIM:607014
Nijmegen Breakage Syndrome
Respiratory failure ORPHA:647
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Tremor ORPHA:29072
Hemorrhagic Fever-Renal Syndrome
Respiratory failure ORPHA:340
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Agenesis of corpus callosum, Lobar holoprosencephaly, Neonatal death OMIM:618500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Respiratory failure, Miscarriage ORPHA:96334
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Central nervous system degeneration, Abnormal pyramidal sign, Hyp... ORPHA:581
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Spasticity, Global brain atrophy, Respiratory failure ORPHA:500150
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure ORPHA:2556
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Spasticity, Cerebellar atrophy, Cerebral atrophy OMIM:301030
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure ORPHA:79404
Tuberous Sclerosis Complex
Respiratory failure ORPHA:805
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:304120
Nocardiosis
Respiratory failure ORPHA:31204
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure ORPHA:731
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration, Spasticity, Hypertonia, Spastic tetraparesis OMIM:620455
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Spasticity, Vocal cord paralysis, Hypertonia ORPHA:798
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Codas Syndrome
Vocal cord paresis OMIM:600373
Esophageal Atresia
Vocal cord paresis, Hypertonia ORPHA:1199
Degcags Syndrome
Vocal cord paralysis OMIM:619488
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Acrofacial Dysostosis, Cincinnati Type
Abnormality of coordination, Lower limb spasticity, Myoclonus, Vocal cord paralysis OMIM:616462
Williams-Beuren Syndrome
Incoordination, Poor coordination, Vocal cord paralysis OMIM:194050
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050

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 Ptbp2

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 Ptbp2.

No publications found that use IMPC mice or data for Ptbp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptbp2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptbp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptbp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptbp2em1(IMPC)Hmgu Exon Deletion Mice

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