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Gene: App MGI:88059

Gene Summary

Name:

amyloid beta precursor protein

Synonyms:

betaAPP, E030013M08Rik, protease nexin II, Cvap, appican, Abeta, Adap

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	App^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
short tibia	App^{tm1b(KOMP)Wtsi}	HET	Early adult	8.89×10^-05
increased cornea thickness	App^{tm1b(KOMP)Wtsi}	HET	Early adult	2.92×10^-07
increased circulating calcium level	App^{tm1b(KOMP)Wtsi}	HET	Early adult	3.17×10^-05
increased blood urea nitrogen level	App^{tm1b(KOMP)Wtsi}	HET	Early adult	5.41×10^-07
decreased grip strength	App^{tm1b(KOMP)Wtsi}	HET	Early adult	2.46×10^-05
decreased total retina thickness	App^{tm1b(KOMP)Wtsi}	HET	Early adult	6.34×10^-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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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.

Human diseases associated with App (8 diseases)
Human diseases predicted to be associated with App (1353 diseases)

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

Disease	Matching phenotypes	Source
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Cerebral hemorrhage, Dementia, Stroke, Gait disturbance, M...	ORPHA:324708
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Semantic dementia, Disinhibition...	ORPHA:1020
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Dementia	OMIM:104300
Abeta Amyloidosis, Arctic Type		ORPHA:324723

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

Disease	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	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract	OMIM:146200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Lissencephaly 7 With Cerebellar Hypoplasia	Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria	OMIM:616342
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan...	ORPHA:240094
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Grubben-De Cock-Borghgraef Syndrome	Partial agenesis of the corpus callosum	ORPHA:2101
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Short ribs, Metaphy...	OMIM:241500
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Developmental And Epileptic Encephalopathy 71	Gliosis	OMIM:618328
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Brittle Cornea Syndrome 1	Keratoconus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, Decreased corn...	OMIM:229200
Chromosome 3Q13.31 Deletion Syndrome	Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:615433
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Mitochondrial Complex I Deficiency, Nuclear Type 16	Caudate atrophy, Failure to thrive, Agenesis of corpus callosum	OMIM:618238
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy	OMIM:607855
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ...	ORPHA:397744
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene...	OMIM:618736
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial...	ORPHA:449285
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Anencephaly	OMIM:614120
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal thickening, Hypercalcemia	OMIM:617994
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,...	OMIM:607143
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ...	ORPHA:258
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Lissencephaly 6 With Microcephaly	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha...	OMIM:616212
Hereditary Late-Onset Parkinson Disease	Akinesia, Weight loss, Bradykinesia, Dementia, Gliosis, Shuffling gait, Mental deterioration, Ort...	ORPHA:411602
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca	ORPHA:809
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Hemimegalencephaly	Gliosis, Abnormal neuron morphology	ORPHA:99802
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili...	ORPHA:3077
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul...	ORPHA:183
Fusariosis	Myositis, Sinusitis, Maculopapular exanthema, Fasciitis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Parkinson Disease 1, Autosomal Dominant	Mental deterioration, Bradykinesia, Dementia, Gliosis, Gait disturbance, Shuffling gait, Loss of ...	OMIM:168601
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Failure to ...	OMIM:618603
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy	OMIM:117300
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Whipple Disease	Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis	ORPHA:3452
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Gliosis, Orthostatic hypotension due to autonomic dysfunction, Progressive neurologic det...	OMIM:169500
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Myasthenia Gravis	Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis	ORPHA:589
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Amyloidosis, Hereditary, Transthyretin-Related	Amyloidosis, Dementia, Confusion	OMIM:105210
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Congenital Neuronal Ceroid Lipofuscinosis	Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o...	ORPHA:168486
Pyomyositis	Recurrent cutaneous abscess formation, Myositis	ORPHA:764
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Spinocerebellar Ataxia Type 21	Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atroph...	ORPHA:79243
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Decreased body ...	OMIM:618346
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Developmental And Epileptic Encephalopathy 14	Gliosis	OMIM:614959
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter	OMIM:613752
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity, Gait disturbance, Gliosis	OMIM:300957
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation...	OMIM:619517
Supranuclear Palsy, Progressive, 1	Akinesia, Astrocytosis, Bradykinesia, Gliosis, Falls, Gait imbalance, Memory impairment, Frontoli...	OMIM:601104
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Small for gestational age, Progressive neurologic deterioration, Microc...	OMIM:214150
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:164180
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cognitive impa...	OMIM:613735
Imagawa-Matsumoto Syndrome	Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure...	ORPHA:251004
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Gait disturbance, Gliosis, Myocardial infarction	ORPHA:457240
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Arachnodactyly, Absent phalangeal crease, Kerat...	OMIM:108145
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co...	OMIM:620316
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Pes planus, Arachnodactyly, Corneal dystrophy, Corneal erosion...	ORPHA:90354
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Agenesis of corpus callosum	OMIM:610498
Pontocerebellar Hypoplasia, Type 4	Gliosis	OMIM:225753
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis...	ORPHA:2552
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ...	OMIM:616819
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Microtriplication 11Q24.1	Keratoconus, Metatarsus adductus, Hyperlipidemia, Small hand, Genu valgum, Short foot, Talipes eq...	ORPHA:289522
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Oculoskeletodental Syndrome	Hypercalcemia, Short femoral neck, Hypocalcemia, Developmental cataract	OMIM:618440
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno...	ORPHA:86822
Thymoma	Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal...	ORPHA:89844
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Irritability, Colpocephaly, Secondary microcephaly, Choking...	OMIM:620352
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacification of ...	OMIM:164900
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Pericarditis, Fasciitis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct...	ORPHA:32960
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Intellectual Developmental Disorder, Autosomal Dominant 65	Attention deficit hyperactivity disorder, Agenesis of corpus callosum, Compulsive behaviors, Aggr...	OMIM:619320
Corticobasal Syndrome	Akinesia, Bradykinesia, Dementia, Gait disturbance, Memory impairment	ORPHA:454887
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Dementia, Progressive neurologic deterioration, Cerebral amyloid angiopathy	OMIM:176500
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Linear Skin Defects With Multiple Congenital Anomalies 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300887
Infantile Myofibromatosis	Abnormal metaphysis morphology, Hypercalcemia	ORPHA:2591
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle...	OMIM:620080
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Agenesis of corpus callosum, Microcephaly	OMIM:619989
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Lethargy, Petechiae	OMIM:617397
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Memory impairment, Dementia, Gliosis	OMIM:606688
Machado-Joseph Disease	Ataxia, Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Dementia, Gliosis, Truncal ataxia	OMIM:109150
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	ORPHA:453521
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Microcephaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpu...	OMIM:312170
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absen...	ORPHA:476126
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter	OMIM:614096
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly	ORPHA:466688
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Keratoconus, Central posterior corneal opacity, Brachydactyly	OMIM:244600
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Baraitser-Winter Syndrome 2	Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Albers-Schönberg Osteopetrosis	Optic atrophy, Genu valgum, Hypocalcemia, Abnormal epiphysis morphology, Abnormal metacarpal morp...	ORPHA:53
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he...	OMIM:277480
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetan...	OMIM:612462
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Coach Syndrome 2	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:619111
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Dementia, Akinesia, Aggressive behavior	OMIM:300894
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Portal hypertension, Astrocytosis, Bradykinesia, Dysdiadochokinesis, Prolonged prothrombin time, ...	ORPHA:309854
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking, Failure to thrive	ORPHA:280210
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S...	ORPHA:500144
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly	OMIM:245349
Leigh Syndrome	Failure to thrive, Ataxia, Gliosis	OMIM:256000
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2182
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	ORPHA:380
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618577
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Fg Syndrome 3	Hyperactivity, Agenesis of corpus callosum	OMIM:300406
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Corpus Callosum Agenesis-Neuronopathy Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Hyperintensity of cerebral white matter on MRI, Inappropriate laughter, C...	OMIM:618476
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Genu valgum, Abnormal optic disc morphology, Decreas...	ORPHA:293967
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
6Q25 Microdeletion Syndrome	Failure to thrive, Agenesis of corpus callosum, Microcephaly	ORPHA:251056
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Aggressive behavior, Irritability, Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia ...	ORPHA:481152
Maternal Uniparental Disomy Of Chromosome X	Agenesis of corpus callosum, Microcephaly	ORPHA:261519
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu...	OMIM:613327
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Aapoaiv Amyloidosis	Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis	ORPHA:439232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy...	OMIM:615249
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Arthritis	ORPHA:93672
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Metaphyseal irregularity, Hypophosphatemia	OMIM:239200
Craniosynostosis 6	Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:616602
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b...	OMIM:608940
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria...	OMIM:225790
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ...	OMIM:620156
Familial Mediterranean Fever	Neutrophilia, Splenomegaly, Leukocytosis, Amyloidosis, Renal amyloidosis	OMIM:249100
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o...	OMIM:617669
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Orthostatic Hypotension 1	Hypomagnesemia, Brachydactyly, Increased blood urea nitrogen	OMIM:223360
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm	OMIM:244460
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Hyp...	ORPHA:249
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Basal ganglia gliosis, Gliosis, Lethargy, Hypertrophic cardiomyopathy	OMIM:604377
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Cockayne Syndrome Type 3	Progressive neurologic deterioration, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Ast...	ORPHA:90324
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Kufor-Rakeb Syndrome	Ataxia, Akinesia, Aggressive behavior, Distal sensory impairment, Dementia, Gait disturbance, Dys...	OMIM:606693
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Secondary microcephaly, Hypoplasia ...	OMIM:620073
Classic Progressive Supranuclear Palsy Syndrome	Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai...	ORPHA:240071
Adducted Thumbs Syndrome	Myelin-dependent gliosis	OMIM:201550
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo...	OMIM:609560
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Lissencephaly, X-Linked, 2	Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Leukoenceph...	OMIM:619244
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Microcephaly, Irritability, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance, Gliosis	ORPHA:88619
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
4Q21 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Cerebellar ...	ORPHA:238750
Monosomy 13Q34	Pes planus, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Postaxial foot polydactyly	ORPHA:96168
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im...	ORPHA:247234
Spastic Paraplegia 50, Autosomal Recessive	Ataxia, Gliosis	OMIM:612936
Joubert Syndrome 18	Agenesis of cerebellar vermis, Agenesis of corpus callosum	OMIM:614815
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619653
Nizon-Isidor Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Attention deficit hyperactivity d...	OMIM:618872
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be...	OMIM:613174
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Hellp Syndrome	Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage	ORPHA:244242
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly	OMIM:618142
Neurodegeneration With Brain Iron Accumulation 2A	Unsteady gait, Ataxia, Gliosis	OMIM:256600
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Autoimmune Hypoparathyroidism	Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait	ORPHA:391411
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Obesity, Depression, Irritability, Subcortical cerebral a...	ORPHA:96147
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Agenesis of corpus callosum, I...	OMIM:618929
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Microcephaly, Obesity, Agenesis of corpus callosum, Attention d...	OMIM:619312
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Al-Gazali-Bakalinova Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:93267
Subependymal Nodular Heterotopia	Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria	ORPHA:101030
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor...	ORPHA:352540
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Cataract, Hypocalcemia, Short distal phalanx of finger	ORPHA:1563
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Di...	ORPHA:370959
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia	OMIM:619074
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Attention d...	ORPHA:459061
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Supranuclear Palsy, Progressive, 2	Akinesia, Bradykinesia, Gliosis, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia	OMIM:609454
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:29072
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu...	OMIM:616975
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ...	OMIM:616258
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Agenesis of corpus callosum	ORPHA:521308
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Craniofacial Dyssynostosis With Short Stature	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:218350
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Clubbing, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Abnormal repetitive mannerisms, Cerebral atrophy, Ina...	OMIM:615802
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Agenesis of corpus callosum, Microcephaly	ORPHA:452
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Failure to thrive, Lethargy	ORPHA:79284
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Hypocalcemia, Optic atrophy from cranial nerve compression	ORPHA:210110
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Q Fever	Splenomegaly, Hepatosplenomegaly, Anemia, Amyloidosis, Granuloma, Thrombocytopenia	ORPHA:781
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib...	ORPHA:52430
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Oral cavity bl...	ORPHA:324636
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Fa...	ORPHA:99901
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Genu valgum, Hypocalcemia, Abnormal hip bone morphology, Hy...	ORPHA:93160
Nail-Patella Syndrome	Keratoconus, Pes planus, Cataract, Glenoid fossa hypoplasia, Patellar aplasia, Quadriceps aplasia...	OMIM:161200
Postencephalitic Parkinsonism	Akinesia, Depression, Paresthesia, Dysphagia, Abnormal aggressive, impulsive or violent behavior	ORPHA:97349
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hogue-Janssen Syndrome 2	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616362
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Failure to thrive, Small for gestational...	OMIM:619055
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Frontonasal Dysplasia 1	Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Gliosis, Bradycardia	OMIM:614498
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Ring Chromosome 10 Syndrome	Tapered finger, Sandal gap, Hypocalcemia, Micrognathia	ORPHA:1438
Temtamy Syndrome	Thick corpus callosum, Agenesis of corpus callosum, Self-mutilation	OMIM:218340
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Increased variability in muscle fiber diameter, Flexion contracture	OMIM:619026
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Pseudohypoparathyroidism Type 1C	Calcinosis, Short metacarpal, Short fifth metatarsal, Cataract, Short metatarsal, Hyperphosphatem...	ORPHA:79444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Obesity, Aggressive behavior	OMIM:620250
Parkinson Disease 17	Bradykinesia, Akinesia	OMIM:614203
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De...	ORPHA:289157
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	OMIM:242150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Astrocytosis, Dementia, Gliosis, Failure to thrive	OMIM:203700
Sanjad-Sakati Syndrome	Corneal opacity, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Astigmatism, Hypocalcemia	ORPHA:2323
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In...	OMIM:223900
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Memory impairment, Progressive language deterioration, Gliosis, Frontotemporal dementia	OMIM:607485
Familial Isolated Hypoparathyroidism	Cataract, Hypocalcemia	ORPHA:2238
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Abnormal eating behavior, Microcephaly, Abnormal drinking be...	ORPHA:209905
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Microcephaly 13, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop...	OMIM:616051
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Obesity, Aplasia/Hypopla...	ORPHA:3157
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic s...	OMIM:241410
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Micrognathia, Upper limb undergrowth, Slender long bone, Ast...	ORPHA:369837
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Emotional la...	OMIM:309520
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Multiple Acyl-Coa Dehydrogenase Deficiency	Inability to walk, Congestive heart failure, Cardiomyopathy, Gliosis, Fatigable weakness of neck ...	ORPHA:26791
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Cerebellar hypoplasia, Dysphagi...	OMIM:619435
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum	OMIM:175700
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Brachydactyly	OMIM:602361
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Ring Chromosome 22 Syndrome	Inappropriate behavior, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:1446
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Superficial Siderosis	Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Unsteady gait, Limb ataxia, Dysmetria, Progre...	ORPHA:247245
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Short attention span, Lateral ventricle dilatation, Diminished ability to concent...	OMIM:612863
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lethargy, Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage	OMIM:608836
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Cockayne Syndrome Type 1	Cataract, Foot joint contracture, Optic atrophy, Pigmentary retinopathy, Conjunctivitis, Increase...	ORPHA:90321
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Diffuse white matter abnormalities, Agenesis of corpus callosum	OMIM:218000
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Pancreatitis	ORPHA:2348
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocal...	OMIM:103580
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Ataxia, Dilated cardiomyopathy, Gait ataxia, Gliosis, Lethargy	OMIM:618321
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Hypoplasia of the corpus callosum,...	ORPHA:363528
Pseudohypoparathyroidism Type 1B	Calcinosis, Cataract, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal scleros...	ORPHA:94089
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Cutaneous amyloidosis	OMIM:301220
Medulloblastoma	Ataxia, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar ataxia, Cognitive impairment, Le...	ORPHA:616
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc...	OMIM:255125
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout	OMIM:232800
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Failure to thrive	OMIM:616430
Foxg1 Syndrome Due To 14Q12 Microdeletion	Agenesis of corpus callosum, Abnormal repetitive mannerisms, Microcephaly	ORPHA:261144
Combined Oxidative Phosphorylation Deficiency 24	Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:616239
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Bradykinesia, Akinesia	OMIM:619911
Meningioma	Ataxia, Cerebral hemorrhage, Obesity, Syncope, Transient global amnesia, Difficulty walking, Cogn...	ORPHA:2495
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Tempi Syndrome	Intracranial hemorrhage, Telangiectasia	ORPHA:284227
1Q21.1 Microdeletion Syndrome	Microcephaly, Depression, Attention deficit hyperactivity disorder, Failure to thrive, Agenesis o...	ORPHA:250989
Baraitser-Winter Syndrome 1	Microcephaly, Pachygyria, Lissencephaly, Failure to thrive, Agenesis of corpus callosum	OMIM:243310
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum	OMIM:147950
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:618619
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb...	OMIM:234200
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Dementia, Akinesia	OMIM:616840
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Chronic otitis media, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomi...	OMIM:612949
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Neurofibrillary tangles, Dementia, Agitation, Semantic dementia, Disinhibition...	ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 22	Microcephaly, Agenesis of corpus callosum, Stereotypical hand wringing, Bruxism	OMIM:612337
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis	ORPHA:51
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive, Lethargy	OMIM:606054
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Chiari Malformation Type Ii	Agenesis of corpus callosum, Dysphagia	OMIM:207950
46,Xy Sex Reversal 4	Micrognathia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Melas	Short attention span, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcificatio...	ORPHA:550
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Amyloidosis, Histiocytosis	ORPHA:171
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum	OMIM:109120
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Telangiectasia, Weight loss, Ga...	ORPHA:420741
Coffin-Siris Syndrome 11	Agenesis of corpus callosum	OMIM:618779
Pseudohypoparathyroidism Type 1A	Calcinosis, Short metacarpal, Short fifth metatarsal, Cataract, Band keratopathy, Broad 1st metac...	ORPHA:79443
Braddock-Carey Syndrome 1	Agenesis of corpus callosum, Microcephaly	OMIM:619980
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Athetosis, Second degree atrioventricular block, Hypertension...	ORPHA:369929
Tibial Hemimelia	Absent tibia	OMIM:275220
Microphthalmia With Brain And Digit Anomalies	Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly	ORPHA:139471
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Tubulointerstitial nephritis, Abnormality of the extraocular muscles, Kera...	ORPHA:79078
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Falls, Gliosis, Difficulty walking	OMIM:618222
Tay-Sachs Disease	Short attention span, Inability to walk, Dysmetria, Memory impairment, Gait disturbance, Gliosis,...	ORPHA:845
Vici Syndrome	Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr...	ORPHA:1493
Xp21 Deletion Syndrome	Agenesis of corpus callosum, Confusion	ORPHA:261476
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of...	OMIM:619720
Aceruloplasminemia	Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gait ataxia, Cognitive impairment, Memor...	ORPHA:48818
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Decreased body weig...	OMIM:609053
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage, Failure to thrive, Lethargy	OMIM:251000
Intellectual Developmental Disorder, Autosomal Recessive 65	Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Aggressive behavior	OMIM:618109
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,...	OMIM:613001
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse...	ORPHA:899
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Flared metaphysis, Optic atrophy, Coxa vara, Hypocalcemia	OMIM:259700
Glutaryl-Coa Dehydrogenase Deficiency	Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dementia, Cognitive impairment	ORPHA:25
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:990
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Hydrolethalus	Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Failure to th...	OMIM:614924
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities	OMIM:619737
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Agenesis of corpus callosum, Microcephaly	OMIM:300004
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak...	OMIM:157640
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Tapered finger, Optic atrophy	ORPHA:401777
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Cor...	ORPHA:468631
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis	OMIM:608033
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Abno...	ORPHA:411634
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Cerebral Visual Impairment	Intracranial hemorrhage, Short attention span, Ischemic stroke, Attention deficit hyperactivity d...	ORPHA:447788
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Leigh Syndrome	Ataxia, Progressive neurologic deterioration, Congestive heart failure, Choreoathetosis, Athetosi...	ORPHA:506
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Difficulty walking, Bruising suscepti...	ORPHA:536545
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Curry-Jones Syndrome	Agenesis of corpus callosum	ORPHA:1553
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Failure to thrive in infancy, Microcephaly, Tongue thrusting, Self-injurious behav...	ORPHA:261323
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Akinesia	OMIM:607598
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpus ...	ORPHA:96092
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Cataract, Micrognathi...	OMIM:617913
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Pica, Small cerebral cortex, Hypoplasia of the corpus callosum, Periventricular leu...	OMIM:617360
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Congenital Myopathy 12	Pulmonary artery stenosis, Small for gestational age, Akinesia	OMIM:612540
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Failure to thrive, Akinesia, Truncal ataxia	OMIM:618249
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Memory impairment, Demen...	ORPHA:79282
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia,...	ORPHA:175
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hypoplasia of the pyramidal tract, Pachygyria, Hypoplasia of the brainstem, Lissencephaly, Cerebe...	OMIM:253800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Agnathia-Otocephaly Complex	Agenesis of corpus callosum	OMIM:202650
Sotos Syndrome	Aggressive behavior, Partial agenesis of the corpus callosum, Increased body weight, Attention de...	OMIM:117550
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu...	OMIM:614643
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p...	ORPHA:96334
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Fetal Gaucher Disease	Intracranial hemorrhage	ORPHA:85212
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasi...	OMIM:301056
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Cogni...	ORPHA:217260
Kleefstra Syndrome Due To A Point Mutation	Failure to thrive, Gliosis, Large for gestational age	ORPHA:261652
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Tubulointerstitial nephritis, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Emanuel Syndrome	Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Dysphagia, Failure to ...	ORPHA:96170
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo...	OMIM:248700
Birk-Landau-Perez Syndrome	Pachygyria, Agenesis of corpus callosum, Failure to thrive in infancy, Microcephaly	OMIM:617595
Immunodeficiency 49	Agenesis of corpus callosum, Reduced cerebral white matter volume	OMIM:617237
Alexander Disease	Cerebral calcification, Megalencephaly, Depression, Self-injurious behavior, Dysphagia, Emotional...	ORPHA:58
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum	OMIM:615219
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Gliosis	OMIM:619847
Duplication Of The Pituitary Gland	Microcephaly, Hypoplasia of olfactory tract, Decreased body weight, Agenesis of corpus callosum, ...	ORPHA:314621
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Failure to thrive, Anorexia, Hyperintensity of cerebral white matt...	ORPHA:3008
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Dementia	OMIM:104300
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, ...	ORPHA:314679
Optic Atrophy 11	Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb...	ORPHA:2177
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Dysphagia, Polymicrogyria,...	OMIM:619775
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Small for gestational age, Microcephaly, Aggressive behavior, Anencephaly, Agenesi...	OMIM:619148
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene...	OMIM:616449
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Capillary leak, Intracranial hemorrhage, H...	ORPHA:340
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:85138
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Agenesis of corpus callosum, Microcephaly	OMIM:612940
Kleefstra Syndrome	Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Obesity, Self-injurious behavi...	ORPHA:261494
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Inability to walk, Ataxia, Gliosis	OMIM:617193
Donnai-Barrow Syndrome	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c...	OMIM:222448
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Akinesia, Decreased body weight, Petechiae, Purpura	OMIM:608013
Familial Cerebral Cavernous Malformation	Venous malformation, Cognitive impairment, Cerebral hemorrhage	ORPHA:221061
1Q44 Microdeletion Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:238769
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ataxia	OMIM:614424
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop...	OMIM:613150
Halperin-Birk Syndrome	Pseudobulbar paralysis, Failure to thrive, Agenesis of corpus callosum, Colpocephaly	OMIM:618651
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation	OMIM:617296
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pigmentary retinopathy, Hypo...	ORPHA:746
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Sel...	OMIM:619512
Desmosterolosis	Failure to thrive, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria...	ORPHA:35107
Osteogenesis Imperfecta	Aortic regurgitation, Arterial dissection, Ataxia, Small for gestational age, Cerebral hemorrhage...	ORPHA:666
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Agenesis of corpus callosum	ORPHA:52055
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Akinesia	OMIM:619147
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Increased corneal thickness, Duplication of thumb ...	ORPHA:2363
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Timothy Syndrome	Hypocalcemia, Cutaneous syndactyly	OMIM:601005
Neurocutaneous Melanocytosis	Intracranial hemorrhage	ORPHA:2481
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Proximal amyotrophy	OMIM:159400
Aspergillosis	Intracranial hemorrhage, Stroke	ORPHA:1163
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Inability to walk, Athetosis, Prolonged prothrombin time, Gliosis, Fai...	ORPHA:404454
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220497
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly	OMIM:234050
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter	OMIM:615595
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage	OMIM:243700
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Microcephaly	ORPHA:261236
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Agenesis of corpus callosum	ORPHA:77298
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy	ORPHA:369840
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr...	ORPHA:157
Mannosidosis, Alpha B, Lysosomal	Gliosis, Limb ataxia, Gait ataxia	OMIM:248500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Multiple Endocrine Neoplasia, Type Iia	Cutaneous lichen amyloidosis	OMIM:171400
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Developmental cataract, Retinal ...	ORPHA:93325
Pontocerebellar Hypoplasia, Type 2A	Gliosis	OMIM:277470
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Tetrasomy 9P	Arthritis, Myositis, Pericarditis	ORPHA:3310
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr...	ORPHA:502423
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Attent...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Attent...	ORPHA:363958
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Williams Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:904
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Combined Oxidative Phosphorylation Deficiency 14	Basal ganglia gliosis, Gliosis	OMIM:614946
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Pedal edema, Elevated circulating C-reactive prote...	ORPHA:49041
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:563612
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Agenesis of corpus callosum, Attention deficit hyperactivity disorder	OMIM:618748
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of...	OMIM:218330
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Renal amyloidosis	OMIM:120100
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Hypocalcemia, Shor...	OMIM:300712
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Subdural hemorrhage	OMIM:618291
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Micrognathia, Optic atrophy, Flared metaphysis, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Fanconi Anemia, Complementation Group D2	Small for gestational age, Microcephaly, Hypoplasia of the corpus callosum, Attention deficit hyp...	OMIM:227646
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Ankle flexion contracture, Osteolytic defects of the phalanges o...	OMIM:618175
Trisomy 1Q	Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:261344
Muckle-Wells Syndrome	Leukocytosis, Renal amyloidosis	OMIM:191900
Fumarase Deficiency	Failure to thrive, Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Po...	OMIM:606812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Anencephaly, Abnorma...	OMIM:615287
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Cerebrotendinous Xanthomatosis	Short attention span, Ataxia, Precocious atherosclerosis, Progressive psychomotor deterioration, ...	ORPHA:909
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum	ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
X-Linked Agammaglobulinemia	Conjunctivitis, Hypocalcemia	ORPHA:47
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Patent ductus arteriosus, Unsteady gait, Cerebral hemorrhage	OMIM:616682
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Failure to thrive, ...	OMIM:605039
Tarp Syndrome	Athetosis, Failure to thrive, Subdural hemorrhage, Tetralogy of Fallot	OMIM:311900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Depression, Self-injurious behavior, Agenesis of corpus callosum, Cerebral cortical...	ORPHA:847
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Micrognathia, Abnormal pupil morphology, ...	ORPHA:52
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pedal edema, Hypoalbuminemia...	ORPHA:247353
Basel-Vanagaite-Smirin-Yosef Syndrome	Aggressive behavior, Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of ...	ORPHA:464738
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage, Unsteady gait	OMIM:618480
Toriello-Carey Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus...	ORPHA:3338
Heterotaxy, Visceral, 2, Autosomal	Agenesis of corpus callosum, Microcephaly	OMIM:605376
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Confusi...	ORPHA:99827
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Opitz Gbbb Syndrome	Short attention span, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of th...	ORPHA:2745
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Confusion, Supraventricular arrhythmia, Pulmonary embolism, Raynaud ph...	ORPHA:3260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains...	OMIM:236670
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617260
Cockayne Syndrome	Ataxia, Cachexia, Inability to walk, Retinal hemorrhage, Hypertension, Progressive gait ataxia, R...	ORPHA:191
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Cholecystitis, Muscle fiber splitting	OMIM:611881
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lymphatic vessel morphology, Subconju...	ORPHA:464329
Acromelic Frontonasal Dysplasia	Agenesis of corpus callosum, Hypoplasia of the olfactory bulb	ORPHA:1827
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten...	OMIM:618820
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Attention deficit hyperactivity di...	ORPHA:2461
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy	OMIM:619424
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, S...	ORPHA:109
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Prominent corneal nerve fibers	ORPHA:653
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Petechiae, Decreased body weight	OMIM:617053
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame...	OMIM:164310
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Agenesis of corpus callosum	ORPHA:3301
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Microcephaly, Hypodysplasia of the corpus callosum, Cerebellar hypopla...	OMIM:257300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Chromosome 14Q11-Q22 Deletion Syndrome	Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpu...	OMIM:613457
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Curry-Jones Syndrome	Polymicrogyria, Agenesis of corpus callosum, Hemimegalencephaly, Megalencephaly	OMIM:601707
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Cono-Spondylar Dysplasia	Partial agenesis of the corpus callosum, Failure to thrive	ORPHA:420794
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Agenesis of corpus callosum	OMIM:300472
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Truncal obesity, Ataxia, Gliosis, Truncal ataxia	OMIM:301072
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Stromme Syndrome	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenes...	OMIM:243605
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:217980
Arachnoid Cyst	Subarachnoid hemorrhage, Inability to walk, Social and occupational deterioration, Gait disturban...	ORPHA:2356
Orofaciodigital Syndrome Type 5	Agenesis of corpus callosum, Microcephaly	ORPHA:2919
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Congenital Disorder Of Deglycosylation 1	Dilation of Virchow-Robin spaces, Dysmetria, Athetosis, Gliosis, Decreased body weight	OMIM:615273
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum	ORPHA:1812
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Cholera	Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmoplantar cutis laxa	ORPHA:173
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Orofaciodigital Syndrome V	Microcephaly, Agenesis of corpus callosum, Overfriendliness	OMIM:174300
Pseudotrisomy 13 Syndrome	Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:264480
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Gliosis	ORPHA:3240
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Dysphagia	OMIM:300000
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Microform Holoprosencephaly	Agenesis of corpus callosum, Microcephaly	ORPHA:280200
Dpagt1-Cdg	Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin...	ORPHA:86309
Alobar Holoprosencephaly	Microcephaly, Depression, Irritability, Attention deficit hyperactivity disorder, Dysphagia, Fail...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Microcephaly, Depression, Irritability, Attention deficit hyperactivity disorder, Dysphagia, Fail...	ORPHA:93926
Lobar Holoprosencephaly	Microcephaly, Depression, Irritability, Attention deficit hyperactivity disorder, Dysphagia, Fail...	ORPHA:93924
Semilobar Holoprosencephaly	Microcephaly, Depression, Irritability, Attention deficit hyperactivity disorder, Dysphagia, Fail...	ORPHA:220386
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Grfoma	Palmoplantar hyperhidrosis, Hypercalcemia	ORPHA:97261
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Ataxia, Confusion, Intracranial hemorrhage...	ORPHA:90062
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria...	ORPHA:1692
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy	OMIM:617675
Ppoma	Hypercalcemia	ORPHA:97278
Velocardiofacial Syndrome	Retinal vascular tortuosity, Talipes, Posterior embryotoxon, Hypocalcemia	OMIM:192430
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia	ORPHA:428
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensi...	ORPHA:261552
Gapo Syndrome	Keratoconus, Micrognathia, Optic atrophy, Abnormal pelvic girdle bone morphology, Abnormal metaph...	ORPHA:2067
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Micrognathia	OMIM:235255
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis	OMIM:134610
Genitopatellar Syndrome	Agenesis of corpus callosum, Microcephaly	ORPHA:85201
Papillorenal Syndrome	Hypertension, Gliosis	OMIM:120330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, 2-3 toe syndac...	ORPHA:163979
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum	OMIM:618733
Helsmoortel-Van Der Aa Syndrome	Obesity, Heart murmur, Truncal obesity, Mitral regurgitation, Gliosis, Attention deficit hyperact...	OMIM:615873
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Right bundle branch block, Ascending tubular aorta aneurysm, Gliosis, H...	OMIM:617403
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum	OMIM:618810
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:3339
Somatostatinoma	Hypercalcemia	ORPHA:97283
Desmosterolosis	Failure to thrive, Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of t...	OMIM:602398
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis	OMIM:617022
Arterial Tortuosity Syndrome	Keratoconus, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital fe...	ORPHA:3342
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Thakker-Donnai Syndrome	Agenesis of corpus callosum	ORPHA:1780
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Pachygyria, Macrogyria, Colpocephaly, Cerebellar hypoplasia, Failure t...	OMIM:614866
African Trypanosomiasis	Somatic sensory dysfunction, Akinesia, Aggressive behavior, Narcolepsy, Impaired proprioception, ...	ORPHA:3385
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the corpus ...	ORPHA:457284
Angelman Syndrome	Keratoconus, Optic disc pallor, Optic atrophy, Astigmatism, Pes valgus, Iris hypopigmentation	ORPHA:72
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem...	OMIM:175780
Gabriele-De Vries Syndrome	Small for gestational age, Oral-pharyngeal dysphagia, Abnormal cerebral white matter morphology, ...	ORPHA:506358
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Right Atrial Isomerism	Agenesis of corpus callosum	OMIM:208530
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in i...	ORPHA:268261
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Small for gestational age, Dysmetria, Coarctation of aorta, Hypertension, Mitral regurgit...	OMIM:220111
Spondylometaphyseal Dysplasia, Sedaghatian Type	Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia	ORPHA:93317
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Failure to thrive, Agenesis of corpus callosum,...	OMIM:277170
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dysphagia, Failure to thrive, Agenesi...	OMIM:242840
Developmental And Epileptic Encephalopathy 49	Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly	OMIM:617281
D-Bifunctional Protein Deficiency	Failure to thrive, Gliosis	OMIM:261515
Costello Syndrome	Keratoconus, Ulnar deviation of finger, Thickened Achilles tendon	ORPHA:3071
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Failure to thrive, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical...	OMIM:210710
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Attention deficit hyperactivity disorder	OMIM:305450
Apert Syndrome	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:87
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Agenesis of corpus callosum	ORPHA:556955
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Absent septum pellucidum, Microcephaly, Hypoplasia of the corpus callo...	OMIM:618500
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,...	ORPHA:2396
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia, Micrognathia	ORPHA:1655
Endocrine-Cerebroosteodysplasia	Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca...	OMIM:612651
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Failure to thrive in infancy, Microcephaly, Hypoplasia of the corpus callosum, Failure to thrive,...	OMIM:619418
Fryns Syndrome	Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation	ORPHA:2059
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Chronic pancreatitis, Generalized lim...	ORPHA:98908
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Failure to thrive, Ataxia, Gliosis	OMIM:124000
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Coffin-Siris Syndrome	Hyperactivity, Aggressive behavior, Microcephaly, Simplified gyral pattern, Oral aversion, Agenes...	ORPHA:1465
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Gliosis, Attention deficit hyperactivit...	OMIM:618846
Williams-Beuren Syndrome	Hallux valgus, Down-sloping shoulders, Hypercalcemia, Retinal arteriolar tortuosity, Blue irides,...	OMIM:194050
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Mosaic Trisomy 8	Agenesis of corpus callosum	ORPHA:96061
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Rickets of the lower limbs, Lower limb asymmetry, Abnormal sacroiliac joi...	ORPHA:289176
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Marshall-Smith Syndrome	Failure to thrive, Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria...	OMIM:602535
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Po...	OMIM:620305
Mismatch Repair Cancer Syndrome 1	Agenesis of corpus callosum	OMIM:276300
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Polymyositis	Arthritis, Pericarditis, Abnormal muscle fiber morphology	ORPHA:732
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Pes planus, Retinal detachment, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Gapo Syndrome	Keratoconus, Micrognathia, Retinal arteriolar tortuosity, Optic atrophy, Shallow anterior chamber...	OMIM:230740
Jacobsen Syndrome	Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Attention deficit hyperactivity disorder	ORPHA:2308
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	OMIM:309801
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Failure to thrive, Agenesis of corpus callosum, Cerebra...	OMIM:151050
Structural Heart Defects And Renal Anomalies Syndrome	Partial agenesis of the corpus callosum, Microcephaly	OMIM:617478
Microphthalmia, Syndromic 3	Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:206900
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal...	OMIM:301043
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Sarcoidosis	Keratoconjunctivitis sicca, Abnormal conjunctiva morphology, Cataract, Hypercalcemia	ORPHA:797
Molybdenum Cofactor Deficiency, Complementation Group B	Gliosis	OMIM:252160
Sotos Syndrome	Hip contracture, Pes planus, Cataract, Hypercalcemia, Ankle flexion contracture, Bilateral campto...	ORPHA:821
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Hypocalcemia, Abnormal epiphysis morphology, Hypophosphatemia, Abnormal...	ORPHA:667
15Q Overgrowth Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:314585
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Mycophenolate Mofetil Embryopathy	Agenesis of corpus callosum	ORPHA:268249
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Dementia, Cerebellar hypopl...	ORPHA:2273
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis	OMIM:252150
Pearson Syndrome	Cataract, Hypomagnesemia, Corneal stromal edema, Pigmentary retinopathy, Hypokalemia, Hypocalcemi...	ORPHA:699
Beare-Stevenson Cutis Gyrata Syndrome	Agenesis of corpus callosum	OMIM:123790
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased...	ORPHA:17
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Rubinstein-Taybi Syndrome 1	Short attention span, Hyperactivity, Small for gestational age, Impulsivity, Microcephaly, Trunca...	OMIM:180849
Craniofrontonasal Syndrome	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Apert Syndrome	Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly	OMIM:101200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the corpus ca...	ORPHA:508498
Holoprosencephaly 14	Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus callosum, Partial absence ...	OMIM:619895
Bohring-Opitz Syndrome	Microcephaly, Hypoplasia of the corpus callosum, Severe failure to thrive, Agenesis of corpus cal...	ORPHA:97297
Muckle-Wells Syndrome	Splenomegaly, Renal amyloidosis, Anemia	ORPHA:575
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Gliosis, Large for gestational age	OMIM:300868
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum	ORPHA:48652
Arthrogryposis Multiplex Congenita 5	Cardiac arrest, Akinesia	OMIM:618947
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood urea...	ORPHA:447
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l...	ORPHA:33364
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Agenesis of corpus callosum	OMIM:618419
Aicardi Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Lateral vent...	OMIM:304050
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Increased muscle lipid content, Abnormality of the calf mus...	ORPHA:565612
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Perlman Syndrome	Agenesis of corpus callosum, Large for gestational age	OMIM:267000
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism, Arachnodactyly, Micrognathia	OMIM:208050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,...	ORPHA:2785
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Cerebellar vermis hypoplasia, Aggressive behavior, Microcephaly, Self-inju...	OMIM:619841
22Q11.2 Deletion Syndrome	Cataract, Arachnodactyly, Micrognathia, Retinal arteriolar tortuosity, Optic atrophy, Hand polyda...	ORPHA:567
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu...	OMIM:311200
Phace Syndrome	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W...	ORPHA:42775
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Bruxism, Agenesis of cor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Bruxism, Agenesis of cor...	ORPHA:352665
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration	ORPHA:2538
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Aicardi Syndrome	Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach...	ORPHA:50
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Chromosome 13Q14 Deletion Syndrome	Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum	OMIM:613884
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Isotretinoin-Like Syndrome	Hypocalcemia, Micrognathia	ORPHA:2306
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Coffin-Siris Syndrome 4	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	OMIM:614609
1P36 Deletion Syndrome	Microcephaly, Polyphagia, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Dysphagi...	ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal	Aggressive behavior, Microcephaly, Polymicrogyria, Obesity, Leukoencephalopathy, Agenesis of corp...	OMIM:607872
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:619194
Acrocallosal Syndrome	Failure to thrive, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum	OMIM:200990
Histiocytoid Cardiomyopathy	Failure to thrive, Agenesis of corpus callosum	ORPHA:137675
Attrv122I Amyloidosis	Cardiac amyloidosis, Anemia	ORPHA:85451
Smith-Lemli-Opitz Syndrome	Hyperactivity, Diffuse cerebral atrophy, Failure to thrive, Dandy-Walker malformation, Aggressive...	OMIM:270400
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Failure to thrive, Agenesis of corpus callosum	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Failure to thrive, Agenesis of corpus callosum	ORPHA:289548
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Agenesis of corpus callosum	ORPHA:306542
Holoprosencephaly 7	Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum...	OMIM:610828
14Q22Q23 Microdeletion Syndrome	Agenesis of corpus callosum	ORPHA:264200
Charge Syndrome	Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Micrognathia, Absent radius, Short thum...	OMIM:214800
Wolf-Hirschhorn Syndrome	Small for gestational age, Absent septum pellucidum, Microcephaly, Abnormal repetitive mannerisms...	OMIM:194190
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Trisomy 8P	Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly	ORPHA:264450
Holoprosencephaly 1	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:236100
Hartsfield Syndrome	Agenesis of corpus callosum, Microcephaly	OMIM:615465
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Fryns Syndrome	Large for gestational age, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Agenesis...	OMIM:229850
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Agenesis of corpus callosum, Microcephaly	ORPHA:280
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Failure to thrive	OMIM:300373
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Hypocalcemia, Abnormal foot morphology	ORPHA:2136
Monosomy 9P	Agenesis of corpus callosum, Microcephaly	ORPHA:261112
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosu...	OMIM:249000
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Degcags Syndrome	Small for gestational age, Microcephaly, Oral-pharyngeal dysphagia, Choking episodes, Failure to ...	OMIM:619488
Lenz-Majewski Hyperostotic Dwarfism	Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2658
Holoprosencephaly 9	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Micr...	OMIM:610829
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g...	OMIM:615948
Orofaciodigital Syndrome Type 1	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:2750
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Gait disturbance, Subarachnoid hemorrhage	ORPHA:139417
Ring Chromosome 13 Syndrome	Anencephaly, Agenesis of corpus callosum, Microcephaly	ORPHA:96176
Orofaciodigital Syndrome Type 14	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W...	ORPHA:434179
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly	ORPHA:2556
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thin corpus callosum	OMIM:619480
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m...	ORPHA:79102
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Confusion, Agenesis of corpus callosum, Cerebellar hypoplasia, Polymicrogyria,...	ORPHA:3455
Viss Syndrome	Carotid artery tortuosity, Epidural hemorrhage, Tortuous cerebral arteries, Abnormal branching pa...	OMIM:619472
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Severe failure to t...	ORPHA:3472
Neu-Laxova Syndrome 1	Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenesis of corpus c...	OMIM:256520
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Micrognathia, Increased circu...	OMIM:619991
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Dysphagia, Failure to thrive, Agenesis of corpus callosum, Dandy-Walke...	OMIM:264090
Simpson-Golabi-Behmel Syndrome	Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:373
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Small for gestational age, Obesity, Attention deficit hyperactivity diso...	OMIM:613406
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinoda...	OMIM:620330
Genitopatellar Syndrome	Microcephaly, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum	OMIM:606170
Mowat-Wilson Syndrome	Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of...	OMIM:235730
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Hyperextensibility of the finger joints, Internally rotated shoulders, Tapered f...	OMIM:619503
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensi...	ORPHA:261537
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:95494
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Microcepha...	OMIM:216340
Coffin-Siris Syndrome 1	Microcephaly, Aggressive behavior, Partial agenesis of the corpus callosum, Hypoplasia of the cor...	OMIM:135900
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Holoprosencephaly 2	Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:157170
Lysinuric Protein Intolerance	Hepatosplenomegaly, Anemia, Leukopenia, Hepatic amyloidosis, Renal amyloidosis, Hemophagocytosis,...	ORPHA:470
Digeorge Syndrome	Sclerocornea, Micrognathia, Patellar dislocation, Hypocalcemia, Posterior embryotoxon	OMIM:188400
Mowat-Wilson Syndrome	Focal cortical dysplasia, Decreased body weight, Agenesis of cerebellar vermis, Cerebellar vermis...	ORPHA:2152
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Baller-Gerold Syndrome	Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia	OMIM:218600
Zttk Syndrome	Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos...	OMIM:617140
Focal Dermal Hypoplasia	Agenesis of corpus callosum, Microcephaly	OMIM:305600
Peters-Plus Syndrome	Decreased body weight, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly	OMIM:261540
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:93271
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum	OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ...	ORPHA:500150
Townes-Brocks Syndrome	Failure to thrive, Agenesis of corpus callosum	ORPHA:857
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Talipes equino...	OMIM:130050
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:312870
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Pes planus, Abnormal foot morphology, Hip dislocation, Keratoconjunctivitis sicca	ORPHA:285
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	ORPHA:466791
Pmm2-Cdg	Pericarditis, Angina pectoris, Ataxia, Intracranial hemorrhage, Hypertrophic cardiomyopathy, Fail...	ORPHA:79318
Johanson-Blizzard Syndrome	Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Conjunctival icterus, Hy...	OMIM:243800
Vascular Ehlers-Danlos Syndrome	Keratoconus, Congenital hip dislocation, Abnormal pupil morphology, Hypokalemia, Talipes equinovarus	ORPHA:286
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Iron deficiency anemia, Renal amyloidosis, Anemia	ORPHA:79408
Craniofacial Microsomia 1	Agenesis of corpus callosum	OMIM:164210
Abeta Amyloidosis, Arctic Type		ORPHA:324723

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 App

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 App.

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

Title	Journal	IMPC Allele	PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass.	eLife (June 2020)	Appl2^{tm1a(KOMP)Wtsi}	PMC7351491
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Appl2^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Appl2^{tm1a(KOMP)Wtsi}	PMC6459510

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MGI Allele	Allele Type	Produced
App^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
App^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
App^em4(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: App MGI:88059

Gene Summary

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lacZ Expression

Associated Images

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Immunophenotyping

Human diseases caused by App mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data