Gene Summary

Name:
amyloid beta precursor protein
Synonyms:
betaAPP,  E030013M08Rik,  protease nexin II,  Cvap,  appican,  Abeta,  Adap

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Apptm1b(KOMP)Wtsi HET   Early adult 8.89×10-05
increased cornea thickness Apptm1b(KOMP)Wtsi HET Early adult 2.92×10-07
increased circulating calcium level Apptm1b(KOMP)Wtsi HET   Early adult 3.17×10-05
decreased grip strength Apptm1b(KOMP)Wtsi HET   Early adult 2.46×10-05
preweaning lethality, incomplete penetrance Apptm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total retina thickness Apptm1b(KOMP)Wtsi HET Early adult 6.34×10-08
increased blood urea nitrogen level Apptm1b(KOMP)Wtsi HET Early adult 5.41×10-07

Download data as:  TSV  XLS

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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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Human diseases caused by App mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Myositis
Myositis OMIM:160750
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Dementia, Stroke, Gait disturbance, M... ORPHA:324708
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Agene... OMIM:618286
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Aggressive behavior, Microcephaly, Simplified gyral pattern, Cerebral a... OMIM:618492
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... OMIM:604213
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum OMIM:166990
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... OMIM:615771
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:619501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Myeloma, Multiple
Amyloidosis OMIM:254500
Focal Cortical Dysplasia, Type Ii
Cognitive impairment, Astrocytosis OMIM:607341
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bradyphrenia, Transient ischemic attack, Confusion, Cerebral hemorrhage, Arterial stenosis, Intra... ORPHA:136
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Focal Myositis
Myositis ORPHA:48918
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... ORPHA:206569
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Lissencephaly 3
Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence... OMIM:611603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... ORPHA:250972
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... OMIM:605899
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria OMIM:300067
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Immunodeficiency 83, Susceptibility To Viral Infections
Mental deterioration, Lethargy, Gliosis, Confusion OMIM:613002
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impairment ORPHA:204
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:85179
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
X-Linked Centronuclear Myopathy
Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fib... ORPHA:596
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Stroke, Gait disturbance, Cognitive impairment, Mental deterioration ORPHA:542310
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Muscle fi... OMIM:253700
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Huntington Disease
Bradykinesia, Dementia, Gliosis, Gait ataxia OMIM:143100
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Frontal lobe dementia, Gliosis, Gait disturbance, Shuffling gait, Mental deteriorat... OMIM:221820
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Eosinophilic Fasciitis
Arthritis, Myositis, Muscular edema, Fasciitis ORPHA:3165
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Adamantinoma
Hypercalcemia ORPHA:55881
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:620200
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ... ORPHA:572013
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Gait disturbance, Frontotemporal dementia, Astrocytosis OMIM:600795
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microcephaly, Cerebral atrophy, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum OMIM:619466
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Frontotemporal dementia OMIM:300857
Foxg1 Syndrome
Decreased body weight, Agenesis of corpus callosum, Progressive microcephaly, Cognitive impairmen... ORPHA:561854
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:616570
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Neurofibrillary tangles, Frontotemporal dementia, Astrocy... ORPHA:100070
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... OMIM:218670
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal dementia, Astrocytosis, Gait disturbance, Mental deterioration, Memory impairment ORPHA:275864
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C... OMIM:619302
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Obesity, Hypoplasia of the corpus callosum, Dys... OMIM:604360
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Loss of ambulation, Basal g... ORPHA:225154
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Self-injurious behavior, Ce... OMIM:617695
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Confusion, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia, Frontal l... OMIM:607136
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis OMIM:619183
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Lissencephaly Due To Tuba1A Mutation
Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ... ORPHA:171680
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:618325
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern OMIM:616540
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... ORPHA:1320
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum, Aggressive behavior OMIM:619548
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Progressive forgetfulness, Stroke-like episode, Bradykinesia, Pr... ORPHA:282166
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Gait ataxia, Gliosis, Gait disturbance, Gait imbalance, Mental deterioration OMIM:618369
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of t... ORPHA:300570
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Band Heterotopia
Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr... OMIM:600348
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Dural Sinus Malformation
Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage,... ORPHA:97339
Manganese Poisoning
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... ORPHA:306682
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... OMIM:619518
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal... ORPHA:1528
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... ORPHA:99845
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Irritability, Cerebellar h... OMIM:607196
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Amyloidosis, Familial Visceral
Splenomegaly, Generalized amyloid deposition OMIM:105200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... OMIM:204000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:304100
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Autosomal Recessive Primary Microcephaly
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Leukoencephalopathy With Vanishing White Matter 1
Unsteady gait, Gait disturbance, Gliosis, Memory impairment, Lethargy OMIM:603896
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Methanol Poisoning
Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria... ORPHA:31825
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Masa Syndrome
Agenesis of corpus callosum, Microcephaly OMIM:303350
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Microcephaly, Aggressive behavior, Failure to thrive, Agenesis of corpus callosum OMIM:615286
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis OMIM:213200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Huntington Disease-Like 1
Dysmetria, Gait ataxia, Bradykinesia, Weight loss, Dementia, Gait disturbance, Gliosis, Cognitive... ORPHA:157941
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, D... OMIM:105550
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:618766
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Developmental cataract, Short 5th finger, Hypocalcemia, Hyp... ORPHA:557003
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Progressive Supranuclear Palsy
Unsteady gait, Abnormal synaptic transmission, Bradykinesia, Dementia, Falls, Gliosis, Cognitive ... ORPHA:683
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Frontal lobe dementia, Dementia, Gait disturbance, Gliosis, Abnormal upper motor neuron morpholog... OMIM:221770
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Sneddon Syndrome
Arterial stenosis, Intracranial hemorrhage, Hypertension, Dementia, Mental deterioration, Memory ... ORPHA:820
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... ORPHA:255138
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Maculopapular exanthema, Pne... ORPHA:39812
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... OMIM:615095
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Slender build, Difficulty walking, Astrocytosis OMIM:611087
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... ORPHA:99828
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:307000
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Hypophosphatasia
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia ORPHA:436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Memory impa... OMIM:606889
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
L-2-Hydroxyglutaric Aciduria
Ataxia, Gliosis OMIM:236792
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Ataxia, Transient ischemic attack, Intracranial hemorrhage, Transient global... ORPHA:140989
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Idiopathic Trachyonychia
Amyloidosis, Autoimmune thrombocytopenia ORPHA:79153
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal chondrodyspla... OMIM:156400
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Areflexia of lower limbs, Elevated circulating creatine kinase concentration, Ankle... OMIM:615883
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia OMIM:614732
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Perry Syndrome
Akinesia, Frontotemporal dementia, Depression, Weight loss, Inappropriate behavior, Disinhibition... OMIM:168605
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra... OMIM:613153
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Femoral bowing... OMIM:602080
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Frontotemporal dementia, Progressive cerebellar ataxia, G... ORPHA:275872
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P... ORPHA:309246
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Skin rash, Pustule, Pustular rash, Malar rash OMIM:615934
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Irritability, Failure to thrive, Agenesis of corpus callosum OMIM:250620
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... OMIM:619574
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Pick Disease Of Brain
Frontotemporal dementia, Gliosis OMIM:172700
Holoprosencephaly 11
Agenesis of corpus callosum, Microcephaly OMIM:614226
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Skin rash ORPHA:81
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Dementia, Gliosis OMIM:604218
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Gliosis OMIM:615119
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Gait disturbance, Gliosis OMIM:604484
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... OMIM:600118
Bacterial Toxic-Shock Syndrome
Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Hypoparathyroidism, Familial Isolated, 1