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Gene: Itgb1 MGI:96610

Gene Summary

Name:

integrin beta 1 (fibronectin receptor beta)

Synonyms:

Fnrb, CD29, beta1 integrin, 4633401G24Rik, Gm9863

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, complete penetrance	Itgb1^em1(IMPC)Bay	HOM	Early adult	0.00
increased startle reflex	Itgb1^em1(IMPC)Bay	HET	Early adult	3.15×10^-07
hyperactivity	Itgb1^em1(IMPC)Bay	HET	Early adult	7.13×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Itgb1 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 Itgb1 (0 diseases)
Human diseases predicted to be associated with Itgb1 (826 diseases)

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

The table below shows human diseases predicted to be associated to Itgb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Schizophrenia 15	Hyperactivity	OMIM:613950
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Intention tremor	OMIM:617863
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Acalvaria	Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal m...	ORPHA:945
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr...	OMIM:187800
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla...	ORPHA:849
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism	ORPHA:1931
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Hypertelorism, Talipes equinovarus, Spina bifida, Camptodactyly	OMIM:211960
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly	ORPHA:1296
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Perching Syndrome	Joint contracture, Cyanosis, Scoliosis, Camptodactyly	OMIM:617055
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Hy...	OMIM:616038
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Microme...	ORPHA:1908
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Talipes equinovarus, Weakne...	OMIM:181400
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Gray matter heterotopia, Syri...	OMIM:207950
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo...	OMIM:155100
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Hyperactivity, Limb dystonia, Aggressive behavior	OMIM:620270
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Toe syndactyly, Camptodactyly of finger, Spina bifida, Shor...	ORPHA:1327
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion	OMIM:613885
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Facial palsy, Triceps weakness, Weakn...	ORPHA:98913
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Hitchhiker thumb, Spina bifida, Micrognathia, Hydrocephalus, Myelomen...	ORPHA:2437
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Micromelia, Micrognathia, Trismus, Hypertelorism, Pachy...	ORPHA:2671
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Micrognathia, Lissencephaly, Ventriculomegaly	ORPHA:99742
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Pallor, Failure to thrive, Generalized amyotrophy	OMIM:613561
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela...	ORPHA:2414
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Spina bif...	ORPHA:3219
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Pallor	ORPHA:90064
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Low posterior hairline, Webbed neck	ORPHA:2345
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Short neck, Achilles tendon contracture, Hamstring con...	OMIM:300696
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Failure to thrive, Cyanosis	ORPHA:91130
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Short neck, Abnormal muscle fiber morphology, Kyphosis, Flexion contractur...	ORPHA:75840
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Increased variability in mus...	OMIM:300718
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh...	ORPHA:1120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane...	ORPHA:63259
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H...	OMIM:617760
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Ra...	OMIM:160500
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy...	OMIM:601399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Verheij Syndrome	Branchial cyst, Vertebral fusion, Small for gestational age, Short neck, Hemivertebrae, Short 5th...	OMIM:615583
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Anophthalmia Plus Syndrome	Deviation of finger, Spina bifida, Hypertelorism	ORPHA:1104
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor	ORPHA:79283
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Short neck, Spina bifida, Micrognathia, ...	ORPHA:99776
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Short distal phalanx of finger	OMIM:609166
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha...	OMIM:139090
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Joubert Syndrome 15	Exencephaly	OMIM:614464
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
X-Linked Mandibulofacial Dysostosis	Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, Pulmonic stenosis, Webbed neck	ORPHA:1131
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis	OMIM:235000
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Ulnar Hemimelia	Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra...	ORPHA:93320
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Diabetic Embryopathy	Micrognathia, Hydrocephalus, Spinal dysraphism, Abnormality of the neck, Aplasia/Hypoplasia of th...	ORPHA:1926
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child...	OMIM:620265
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hyperactivity, Dystonia	OMIM:615924
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w...	OMIM:616228
Neuralgic Amyotrophy	Scapular winging, Acrocyanosis	ORPHA:2901
Bernard-Soulier Syndrome	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro...	OMIM:231200
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, Lumbar hy...	OMIM:167320
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo...	ORPHA:93323
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Failure to thrive in infancy, Limb joint contracture, Ankle flexion c...	ORPHA:284417
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Pallor	ORPHA:2786
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Narrow femoral neck, Slender proximal phalanx of finger, Long proximal phalanx of finger, Flat ca...	OMIM:603546
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Chiari malformation, Abnormal...	ORPHA:93262
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Mandibular prognathia, Tapered finger, Camptodactyly	ORPHA:435938
Waardenburg Syndrome Type 1	Mandibular prognathia, Meningocele, Spina bifida	ORPHA:894
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema	OMIM:608776
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallo...	OMIM:600462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Neu-Laxova Syndrome 1	Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Neonatal death, Dandy-Walker malf...	OMIM:256520
Holoprosencephaly	Encephalocele, Short neck, Hypertelorism, Abnormality of the spleen, Hydrocephalus, Spinal cord t...	ORPHA:2162
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
Frontonasal Dysplasia 1	Hypertelorism, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinuses...	OMIM:136760
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Short n...	OMIM:613776
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Hyp...	OMIM:620157
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy	OMIM:304700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Micrognathia, Preaxial hand...	ORPHA:261318
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Dystonia 31	Abnormal posturing	OMIM:619565
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Dry skin, Muscular dystrophy...	OMIM:617066
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, My...	ORPHA:86812
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus, Myelomeningocele, Achilles tendon contracture, Abnormality...	ORPHA:178382
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Bleeding Disorder, Platelet-Type, 17	Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu...	OMIM:187900
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Cerebellar atrophy	OMIM:618302
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Trisomy 18	Microretrognathia, Camptodactyly of finger, Spina bifida, Hypertelorism, Postaxial hand polydacty...	ORPHA:3380
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Optic Atrophy 1	Pallor	OMIM:165500
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Torticollis, Progressive distal muscular atrophy, Facial palsy, Peroneal muscle...	OMIM:181405
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur...	ORPHA:36412
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia...	ORPHA:3412
Cerebrocostomandibular Syndrome	Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Webbed neck, Clinodac...	ORPHA:1393
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Tho...	OMIM:619542
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Webbed neck, Arthrogryposis multiplex conge...	ORPHA:178148
Aicardi Syndrome	Prominence of the premaxilla, Cerebellar vermis hypoplasia, Spina bifida, Proximal placement of t...	OMIM:304050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Increased nuchal translucency, Macroglossia, Branchial anomaly, Cystic hygroma, Vertebral segment...	ORPHA:453499
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnor...	OMIM:128100
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Kyphosis, Fle...	OMIM:254090
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Spina bifida, Hypertelorism, Hydrocephalus, Irregular ossification of hand...	OMIM:109400
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hypertension, Increased blood pre...	OMIM:619487
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia	ORPHA:63260
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ...	ORPHA:486815
Tetrasomy 5P	Redundant neck skin, Cyanosis, Overlapping toe, Short hallux, Short neck, Long fingers, Hydroceph...	ORPHA:3309
Central Core Disease	Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p...	ORPHA:597
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card...	ORPHA:26793
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Webbed neck	ORPHA:3456
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Short neck, Hypoplasia of ...	ORPHA:915
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia	OMIM:603585
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant...	OMIM:619374
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Achilles tendon contractur...	ORPHA:353
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Aortic regurgitation, B...	ORPHA:508498
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Hypertension, Osteolysis in...	OMIM:166300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa...	OMIM:153670
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk...	OMIM:255160
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Hydrocephalus, Edema	OMIM:617822
Hallermann-Streiff Syndrome	Natal tooth, Spina bifida, Micrognathia, Supernumerary tooth, Metaphyseal widening, Dental malocc...	OMIM:234100
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-...	ORPHA:353327
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th...	ORPHA:84
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Proptosis, Malar flattening,...	OMIM:109120
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior	ORPHA:3077
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypertelorism, Hypoplasia of the maxilla, M...	ORPHA:261295
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Kyphosis...	ORPHA:2311
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval	ORPHA:231111
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Acute Myelomonocytic Leukemia	Pallor, Weight loss	ORPHA:517
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short neck, Hypertelorism,...	ORPHA:2308
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Patellar hypoplasia, Femoral bowing, Tibial bowing, Shorten...	OMIM:114290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Nail-Patella Syndrome	Spina bifida, Patellar aplasia, Hypoplastic radial head, Patellar hypoplasia, Disproportionate pr...	OMIM:161200
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy	ORPHA:2874
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Crouzon Syndrome	Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Chiari malformation, Cerebell...	ORPHA:207
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty...	ORPHA:77259
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ...	ORPHA:50815
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Limited...	ORPHA:324604
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Spina bif...	ORPHA:2092
Dravet Syndrome	Limited neck range of motion, Cyanotic episode, Pallor, Tibial torsion	ORPHA:33069
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Waardenburg Syndrome, Type 1	Mandibular prognathia, Myelomeningocele, Spina bifida, Hypertelorism	OMIM:193500
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, Kyphosis, A...	ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend...	ORPHA:98855
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Increased body weight	ORPHA:276608
Branchiootic Syndrome	Branchial fistula, Micrognathia	ORPHA:52429
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Primary Pulmonary Hypoplasia	Cyanosis, Abnormal hemidiaphragm morphology, Patellar hypoplasia, Hypoxemia, Intrauterine growth ...	ORPHA:2257
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha...	OMIM:620285
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max...	ORPHA:1540
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Ma...	ORPHA:1914
Otopalatodigital Syndrome, Type Ii	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Radi...	OMIM:304120
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Hypertelorism, Deeply set eye, Branchial anomaly, Short palm, Prominent fingertip pads, Ventricul...	ORPHA:466950
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Pediatric Systemic Lupus Erythematosus	Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Choreoathetosis, Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:620023
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Toe syndactyly, Tricuspid regurgitation, Camptodactyly ...	ORPHA:261337
Hemoglobin D Disease	Pallor	ORPHA:90039
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Pallor, Large for gestational age	ORPHA:324575
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Bor Syndrome	Branchial cyst, Retrognathia	ORPHA:107
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly...	ORPHA:261330
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Spinal dysraphism, Aortic valve stenosis, Mitral stenosis	OMIM:617660
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Hypoplasia of the thymus, Arachnodactyly, Abnormal dental enamel morpho...	ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor, Scoliosis	OMIM:617675
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Centrally nucleated skeletal muscle fibers, Coxa valga...	OMIM:248800
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Kyphosis, Achilles tend...	ORPHA:98853
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia	OMIM:300835
Retinitis Pigmentosa 51	Pallor, Polydactyly, Obesity	OMIM:613464
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma...	ORPHA:87
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Pallor...	OMIM:609053
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Muscle-Eye-Brain Disease	Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Increased nuchal translucency, Type 1 muscle fiber atrophy, Macroglossia, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Increased nuchal translucency, Type 1 muscle fiber atrophy, Macroglossia, ...	ORPHA:352665
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Deeply set eye, Clinodactyly of the 5th finger, Prominen...	OMIM:180849
Congenital Myasthenic Syndrome	Cyanosis, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Kyphoscoliosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, A...	ORPHA:98914
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ...	ORPHA:37553
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ...	ORPHA:861
Hereditary Methemoglobinemia	Cyanosis, Small for gestational age	ORPHA:621
Oligomeganephronia	Branchial cyst, Small for gestational age, Congenital diaphragmatic hernia	ORPHA:2260
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Large for gestational age	ORPHA:276556
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeletal muscle fibers...	OMIM:620351
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o...	ORPHA:175
Neurofibromatosis, Type I	Spina bifida, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg...	OMIM:162200
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Facial palsy	OMIM:113650
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Microgn...	ORPHA:439822
Pagod Syndrome	Encephalocele, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meningocele, Abnorm...	ORPHA:991
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor, Large for gestational age	ORPHA:276575
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Deeply set eye, Talipes equin...	ORPHA:85279
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyl...	OMIM:614407
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Non-Functioning Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:94080
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Large for gestational age	ORPHA:276580
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Splenomegaly, Spinal dysraphism, Webbed neck	OMIM:612918
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Aymé-Gripp Syndrome	Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar...	ORPHA:1272
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Jaundice, Pallor	OMIM:615631
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites	ORPHA:2905
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, M...	ORPHA:2462
Cloacal Exstrophy	Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Abnormal fibula morpholog...	ORPHA:93929
Eosinophilic Fasciitis	Acrocyanosis, Myositis, Muscular edema, Weight loss	ORPHA:3165
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Proptosis, Short distal phalanx of finger	ORPHA:2776
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Failure to thrive, Pallor	ORPHA:90045
Mohr Syndrome	Syndactyly, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Hydrocephalus, Po...	OMIM:252100
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy	OMIM:212065
Frontorhiny	Encephalocele, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic fro...	ORPHA:391474
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End...	ORPHA:781
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Pericardial effusio...	ORPHA:99827
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Short neck, Tombstone-shaped proximal phalanges, Micrognat...	OMIM:108721
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Pleural effusion	ORPHA:464329
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop...	ORPHA:2662
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Deeply set eye,...	OMIM:608154
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Failure to thrive, Cyanosis, Right ventricular hypertrophy	ORPHA:444013
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t...	ORPHA:763
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Fucosidosis	Decreased muscle mass, Failure to thrive, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocya...	ORPHA:349
Evans Syndrome	Jaundice, Bruising susceptibility, Pallor, Petechiae	ORPHA:1959
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Umbilical hernia	OMIM:601499
Diamond-Blackfan Anemia 1	Short neck, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the ra...	OMIM:105650
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Martsolf Syndrome 1	Enlarged sylvian cistern, Short metacarpal, Cardiac arrest, Broad femoral neck, Micrognathia, Met...	OMIM:212720
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Talon ...	ORPHA:2409
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneou...	ORPHA:335
Rheumatic Fever	Erythema, Aplasia/Hypoplasia of the abdominal wall musculature, Pallor	ORPHA:3099
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive	OMIM:614857
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Hypertelorism, Camptodactyly of finger, Ulnar deviation of finger	ORPHA:1529
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Pallor, Weight loss	ORPHA:3226
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Alg9-Cdg	Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fet...	ORPHA:79328
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Short neck, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr...	OMIM:615846
Primary Myelofibrosis	Cachexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Sacral Defect With Anterior Meningocele	Myeloschisis, Absence of the sacrum, Tethered cord, Hydrocephalus, Myelomeningocele, Meningocele,...	OMIM:600145
Dominant Beta-Thalassemia	Bowing of the long bones, Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, ...	ORPHA:231226
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Umbilical hernia, Mitral valve prolapse	ORPHA:536532
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Koolen-De Vries Syndrome Due To A Point Mutation	Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Intraventricular hemorrhage, Hydro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Intraventricular hemorrhage, Hydro...	ORPHA:363958
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, 2-3 toe syndactyly, Ventr...	OMIM:218000
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepip...	ORPHA:192
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl...	OMIM:616503
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Micrognathia, Metatarsus adductus, Hypoplasia of the maxilla, Hydrocephalus, Meta...	OMIM:182212
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie...	OMIM:215140
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Encephalopathy, Ethylmalonic	Acrocyanosis, Death in infancy, Failure to thrive, Petechiae	OMIM:602473
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Hypertelorism, Micrognathia, Umbilical h...	ORPHA:2268
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Right ventricular hypertrophy	ORPHA:860
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Scoliosis, Failure to thrive, Skeletal muscle autopha...	OMIM:619518
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Cyanosis	OMIM:263000
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Birth l...	OMIM:139210
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypertelorism,...	OMIM:101800
Split Cord Malformation	Tethered cord, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Tali...	ORPHA:573278
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing, Hypomimic face	ORPHA:225147
Triploidy	Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Macroglossia, Holoprosencephaly, Intra...	ORPHA:3376
Cohen Syndrome	Short metacarpal, Micrognathia, Tapered finger, Hypoplasia of the maxilla, Short metatarsal, Genu...	OMIM:216550
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
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Pallor	OMIM:613839
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Pachygyria, Subcortical band heterotopia	OMIM:618737
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
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss	ORPHA:216866
Sepsis In Premature Infants	Cyanosis, Small for gestational age, Jaundice, Pallor, Decreased body weight, Petechiae, Purpura	ORPHA:90051
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger	ORPHA:1759
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, S...	OMIM:619879
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pallor	ORPHA:163596
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Pallor	OMIM:611590
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Tethered cord, Spina bifida, Hypertelorism, Tapered finger	OMIM:619480
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Beta-Thalassemia Major	Bowing of the long bones, Failure to thrive in infancy, Hypoplasia of the musculature, Jaundice, ...	ORPHA:231214
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla...	ORPHA:1248
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Fifth finger distal phalanx clinodactyly, Micrognathia, Hypoplasia of ...	OMIM:257850
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Hydrocephalus, Meningocele, Scolio...	OMIM:130720
Crouzon Syndrome	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Shallo...	OMIM:123500
Tricuspid Atresia	Cyanosis	ORPHA:1209
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o...	ORPHA:1798
Van Maldergem Syndrome 1	Short fourth metatarsal, Periventricular nodular heterotopia, Micrognathia, Hypoplasia of the max...	OMIM:601390
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Ar...	ORPHA:79321
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Broad hallux, Aplasia of the thymus, Micrognathia, Carious teeth, Hy...	OMIM:620186
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, 2-3 toe syndactyly, Clubbing of toes, Clubbing of fingers, Severe failure to thrive	ORPHA:3304
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Delayed puberty, Low-to-normal b...	ORPHA:358
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia	ORPHA:324636
8Q24.3 Microdeletion Syndrome	Long toe, Branchial cyst, Microretrognathia, Short femur, Gastrointestinal hemorrhage, Rocker bot...	ORPHA:508488
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis, Weight loss	ORPHA:1302
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor, Increased body weight, Large for gestational age	ORPHA:263455
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Death in infancy, Thoracic scoliosis, Abnormality of skeletal muscle fib...	OMIM:620278
Microcephaly-Capillary Malformation Syndrome	Hypertelorism, Hypoplasia of the maxilla, Simplified gyral pattern, Clinodactyly, Short distal ph...	OMIM:614261
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Short neck, Hypoplasia of the maxilla, Hyper...	OMIM:305400
Hennekam Syndrome	Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax...	ORPHA:2136
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Cyanosis, Clubbing, Neonatal death, Failure to thrive	OMIM:265120
Cerebrofacioarticular Syndrome	Syndactyly, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Hypertelorism,...	ORPHA:314679
Gorlin-Chaudhry-Moss Syndrome	Hypertelorism, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Umbilical hernia, Short...	ORPHA:2095
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Chédiak-Higashi Syndrome	Pericardial effusion, Pleural effusion, Epistaxis, Edema	ORPHA:167
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Witteveen-Kolk Syndrome	Proximal placement of thumb, Intracranial hemorrhage, Deeply set eye, Shallow orbits, Short palm,...	OMIM:613406
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Pallor	ORPHA:99931
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Proptosis	ORPHA:90653
Fanconi Anemia, Complementation Group C	Small for gestational age, Anemic pallor, Absent thumb, Absent radius, Short thumb, Flexion contr...	OMIM:227645
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact...	ORPHA:3068
Ethylmalonic Encephalopathy	Acrocyanosis, Failure to thrive, Petechiae	ORPHA:51188
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Limb hypertonia	OMIM:619580
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Hypertelorism,...	OMIM:601812
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachydactyly	ORPHA:776
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cyanosis	ORPHA:159
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Acrocyanosis, S...	ORPHA:896
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Death in infancy, Cyanosis, Ragged-red muscle fibers, Increased intramyo...	OMIM:252010
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Histidinemia	Hyperactivity	ORPHA:2157
Osteoglophonic Dysplasia	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia	OMIM:616367
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Proximal placement of thumb, Short neck, Micrognathia, Short thumb...	OMIM:113620
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis	ORPHA:3265
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp...	OMIM:192350
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Periventricular nodular heterotopia, Microg...	OMIM:615546
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Asbestos Intoxication	Hypoxemia, Clubbing of fingers, Cyanosis, Oxygen desaturation on exertion	ORPHA:2302
Sporadic Pheochromocytoma/Secreting Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:276621
Lateral Meningocele Syndrome	Short neck, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Low post...	ORPHA:2789
Kagami-Ogata Syndrome	Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Splenomegaly, Pulmonic stenosi...	OMIM:608149
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Isolated Posterior Meningocele	Tethered cord, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neura...	ORPHA:268810
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Cutis marmorata, Swelling of proximal interphalangeal joints, Angioedema...	ORPHA:3260
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Postaxial hand polydact...	ORPHA:2166
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology	ORPHA:906
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura	ORPHA:183
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Esophageal Atresia	Cyanosis, Small for gestational age, Failure to thrive in infancy, Pallor, Scoliosis, Clinodactyl...	ORPHA:1199
Alternating Hemiplegia Of Childhood	Failure to thrive, Facial hypotonia, Pallor, Flushing	ORPHA:2131
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short foot, Deeply set eye, Large...	OMIM:300534
Surfactant Metabolism Dysfunction, Pulmonary, 3	Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death, Failure to thrive	OMIM:610921
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Jaundice, Pallor	OMIM:266200
Tarp Syndrome	Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of proximal ra...	ORPHA:2886
Chronic Pneumonitis Of Infancy	Hypoxemia, Failure to thrive, Cyanosis	ORPHA:91359
Vici Syndrome	Left ventricular hypertrophy, Myopathy, Abnormal posturing, Failure to thrive	OMIM:242840
Distal Xq28 Microduplication Syndrome	Epistaxis, Metatarsus adductus, Hypoplasia of the maxilla, Deeply set eye, Clinodactyly	ORPHA:293939
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:300676
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism	OMIM:167730
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Fanconi Anemia, Complementation Group D2	Short stature, Patent ductus arteriosus, Hydrocephalus, Prolonged G2 phase of cell cycle, Abnorma...	OMIM:227646
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb ph...	OMIM:164210
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Pallor	ORPHA:90033
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Genu valgum	ORPHA:488627
Beta-Thalassemia Intermedia	Jaundice, Pallor, Skin ulcer	ORPHA:231222
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the radiu...	ORPHA:245
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Hypoplastic frontal sinuses, Genu valgum,...	ORPHA:560
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad hallux, Arachnodactyly, Hypertelorism, Hypoplasia of the maxilla, Broad thumb	ORPHA:481152
Systemic Mastocytosis With Associated Hematologic Neoplasm	Flushing, Urticaria, Pallor, Weight loss	ORPHA:98849
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Hypoplasia of the maxilla	ORPHA:178303
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im...	OMIM:608233
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Pallor, Weight loss	ORPHA:20
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Coxa valga, Hypoplasia of the maxilla, Aplastic clavicle, Supe...	OMIM:620099
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Sitosterolemia 1	Giant platelets, Impaired platelet aggregation, Thrombocytopenia	OMIM:210250
Cold Agglutinin Disease	Pallor	ORPHA:56425
Imerslund-Gräsbeck Syndrome	Failure to thrive, Pallor, Weight loss	ORPHA:35858
American Trypanosomiasis	Pallor	ORPHA:3386
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po...	ORPHA:51608
Pseudohypoparathyroidism Type 1A	Abnormal platelet function	ORPHA:79443
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgita...	ORPHA:228396
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Micrognathia	ORPHA:79113
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93945
Irida Syndrome	Pallor	ORPHA:209981
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Finger clinodactyly, Aplasia/H...	ORPHA:306542
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Abnormal ossification involving the femoral head and neck, Increased n...	ORPHA:79345
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Beta-Ketothiolase Deficiency	Pallor, Weight loss	ORPHA:134
Hereditary Pheochromocytoma-Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:29072
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Pallor	ORPHA:653
Waldenström Macroglobulinemia	Urticaria, Cutis marmorata, Pallor, Purpura	ORPHA:33226
Acquired Purpura Fulminans	Acrocyanosis, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Meningocele, Dry skin, Facial erythema, Scaling skin, Flexion contracture of ...	ORPHA:1010
Myelofibrosis	Pallor, Purpura	OMIM:254450
Histiocytoid Cardiomyopathy	Hydrocephalus, Failure to thrive, Pallor, Cyanosis	ORPHA:137675
Degcags Syndrome	Syndactyly, Toe syndactyly, Small for gestational age, Short thumb, Preaxial hand polydactyly, Lo...	OMIM:619488
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Incontinentia Pigmenti	Delayed eruption of teeth, Kyphoscoliosis, Erythema, Hemivertebrae, Pallor	OMIM:308300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Redundant neck skin, Postaxial polydact...	ORPHA:397715
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Failure to thrive, Pallor	ORPHA:331206
Neurocutaneous Melanocytosis	Death in infancy, Meningocele	ORPHA:2481
Weill-Marchesani Syndrome 2	Short metacarpal, Hypoplasia of the maxilla, Congestive heart failure, Short metatarsal, Mitral r...	OMIM:608328
Letterer-Siwe Disease	Jaundice, Pallor	OMIM:246400
Diamond-Blackfan Anemia	Small for gestational age, Short neck, Absent thumb, Short thumb, Partial duplication of thumb ph...	ORPHA:124
Noonan Syndrome	Abnormal platelet function	ORPHA:648
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Clubbing, Weight loss	ORPHA:747
Holoprosencephaly 9	Hypoplasia of the premaxilla, Abnormal cortical gyration, Hypoplasia of the maxilla, Hydrocephalu...	OMIM:610829
Double Outlet Right Ventricle	Failure to thrive, Cyanosis	ORPHA:3426
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Hypertelorism, Hypoplasia of the ...	OMIM:231070
Heterotaxy, Visceral, 1, X-Linked	Cyanosis, Block vertebrae, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Bilateral talipe...	OMIM:306955
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Erythema, Pallor, Death in childhood, Failure to thrive	OMIM:557000
7Q31 Microdeletion Syndrome	Torticollis, Hypertelorism, Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent ...	ORPHA:251061
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Pallor	OMIM:606812
Hereditary Spherocytosis	Jaundice, Pallor, Skin ulcer	ORPHA:822
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill...	ORPHA:1101
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Short neck, Tapered finger, Hypoplasia of the maxilla, Increased femoral an...	OMIM:609460
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Senior-Loken Syndrome 8	Polydactyly, Pallor	OMIM:616307
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Short stature, Abnormal heart morphology	OMIM:600901
Complete Atrioventricular Septal Defect	Failure to thrive, Cyanosis, Right ventricular hypertrophy	ORPHA:1329
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Postaxial polydactyly	OMIM:614424
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Clubbing of toes, Clubbing of fingers, Left ventricular hypertrophy, Failure to thrive	ORPHA:99106
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Short stature, Abnormal heart morphology	OMIM:227650
Nablus Mask-Like Facial Syndrome	Sandal gap, Short hallux, Tapered finger, Short neck, Hypoplasia of the maxilla, Hypertelorism, C...	OMIM:608156
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Pallor, Prolonged neonatal jaundice	OMIM:300908
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis, Clubbing	ORPHA:439
Elliptocytosis 1	Jaundice, Pallor	OMIM:611804
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level	ORPHA:79329
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Hand tremor	ORPHA:424
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Short neck, Micromelia, Postaxial polydactyly, Hydrocephalus, An...	OMIM:616546
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Short finger, Tapered finger	ORPHA:1867
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, ...	ORPHA:1827
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Sheehan Syndrome	Pallor, Dry skin, Obesity	ORPHA:91355
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Micrognathia, Hypoplasia of the ma...	ORPHA:193
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Aregenerative Anemia	Bruising susceptibility, Pallor	ORPHA:101096
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Short neck, Upper limb peromelia, Hypopl...	ORPHA:1299
Marfan Syndrome	Skeletal muscle atrophy, Arachnodactyly, Cachexia, Kyphosis, Meningocele, Scoliosis, Slender buil...	ORPHA:558
Pitt-Hopkins Syndrome	Failure to thrive, Short neck, Tapered finger, Broad fingertip, Short metatarsal, Small hand, Fin...	ORPHA:2896
Myasthenic Syndrome, Congenital, 21, Presynaptic	Weakness of facial musculature, Cyanosis, Knee flexion contracture	OMIM:617239
Dermatomyositis	Telangiectasia of the skin, Erythema, Skin ulcer, Weight loss, Acrocyanosis, Inflammatory myopath...	ORPHA:221
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis, Clubbing	OMIM:610910
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Polymyositis	Abnormal muscle fiber morphology, Weight loss	ORPHA:732
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele	ORPHA:2031
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye	OMIM:105830
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Pallor	OMIM:194380
Van Den Ende-Gupta Syndrome	Hallux valgus, Hypoplastic scapulae, Arachnodactyly, Distal ulnar hypoplasia, Tapered finger, Mic...	OMIM:600920
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Failure to thrive, Clubbing, Cyanosis	OMIM:610913
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Hypertelorism, Hypoplasia of t...	ORPHA:794
Ethylene Glycol Poisoning	Cyanosis, Facial palsy	ORPHA:31826
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Overlapping toe, Webbed neck	OMIM:617478
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypertelorism, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of...	ORPHA:50814
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Distal Deletion 19P	Long toe, Umbilical hernia, Hypoplasia of the maxilla, Arachnodactyly	ORPHA:96129
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Adenohypophysitis	Pallor	ORPHA:95512
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Hydrocephalus, Pallor, Abnormal metaphysis m...	ORPHA:667
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Short neck, Micrognathia, Long fingers,...	OMIM:213980
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Panhypophysitis	Pallor	ORPHA:95513
Lathosterolosis	Toe syndactyly, Postaxial hand polydactyly, Meningocele, Postaxial foot polydactyly, Intrauterine...	ORPHA:46059
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Pituitary Apoplexy	Pallor	ORPHA:95613
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypert...	OMIM:209885
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia of the maxilla,...	OMIM:309520
Choanal Atresia	Cyanosis, Polydactyly	ORPHA:137914
Prolactinoma	Pallor	ORPHA:2965
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Hypertelorism	ORPHA:782
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Short neck, Aplasia of the ulna, Abnormal ti...	ORPHA:2879
Cowden Syndrome 1	Hypoplasia of the maxilla, Lymphopenia, Dysplastic gangliocytoma of the cerebellum, Micrognathia	OMIM:158350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Muscular dystrophy, Pallor	OMIM:253280
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Hypertelorism	OMIM:122880
Pulmonary Arteriovenous Malformation	Hypoxemia, Cyanosis, Clubbing, Telangiectasia	ORPHA:2038
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr...	OMIM:277170
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Hypertelorism	ORPHA:2399
Peters-Plus Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Hypoplasia of the maxilla, Short metatarsa...	OMIM:261540
Tay-Sachs Disease	Exaggerated startle response, Tremor, Dysphagia, Dystonia, Laryngeal dystonia	ORPHA:845
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cutis marmorata, Dry skin, Scoliosis, Prolonged neonatal j...	ORPHA:51
Craniosynostosis And Dental Anomalies	Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Broad hallux, Hypertelorism, Hyp...	OMIM:614188
Elsahy-Waters Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Super...	OMIM:211380
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Mitral regurgitation, Pulmonic stenosis, Shallow orbits, Broad phalang...	OMIM:277600
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar aplasia, Hypoplasi...	OMIM:613805
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Failure to thrive, Cyanosis, Death in childhood	OMIM:618426
Von Hippel-Lindau Disease	Upper limb muscle weakness, Distal lower limb muscle weakness, Pallor	ORPHA:892
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Persistence of primary ...	ORPHA:740
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Retrognath...	OMIM:616462
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Patellar aplasia, Micrognathia	OMIM:613804
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Meier-Gorlin Syndrome 1	Absent sternal ossification, Coxa valga, Aplasia/Hypoplasia of the patella, Micrognathia, Hypopla...	OMIM:224690
Classical Ehlers-Danlos Syndrome	Striae distensae, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Talipe...	ORPHA:287
Unilateral Polymicrogyria	Abnormal posturing, Cyanosis	ORPHA:268943
Pulmonary Alveolar Microlithiasis	Cyanosis, Weight loss, Hypoxemia, Clubbing of fingers, Stippled calcification in carpal bones, Ox...	ORPHA:60025
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye	ORPHA:3044
Rapp-Hodgkin Syndrome	Syndactyly, Hypoplasia of the maxilla, Carious teeth, 2-3 toe cutaneous syndactyly, Taurodontia, ...	OMIM:129400
Dyskeratosis Congenita	Telangiectasia of the skin, Abnormality of neutrophils, Hypoplasia of the maxilla, Carious teeth,...	ORPHA:1775
Absence Of The Pulmonary Artery	Cyanosis, Abnormal hemidiaphragm morphology, Hypocapnia	ORPHA:980
Congenital Tracheomalacia	Failure to thrive, Cyanosis, Cutis laxa	ORPHA:95430
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, 2-3 toe syndactyly	OMIM:106260
Cleft Velum	Hypoplasia of the maxilla	ORPHA:99772
Cowden Syndrome 5	Hypoplasia of the maxilla, Micrognathia	OMIM:615108
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Cowden Syndrome 6	Hypoplasia of the maxilla, Micrognathia	OMIM:615109
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia	OMIM:617527
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Cutis marmorata, Tapered finger, Coxa ...	OMIM:303600
Stickler Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Hyper...	ORPHA:828
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula...	ORPHA:79102
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Hypertension, Short ...	ORPHA:2588
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Scoliosis	OMIM:223900
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Overlapping fingers, Failure to thrive in infancy, Overlapping toe, Ky...	ORPHA:798
Zttk Syndrome	Aortic regurgitation, Hypoplasia of the maxilla, Small hand, Short foot, Deeply set eye, Cerebell...	OMIM:617140
Criss-Cross Heart	Cyanosis	ORPHA:1461
Hypermobile Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Umbilical hernia, Acrocyanosis, ...	ORPHA:285
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Aortic regurgitation, Tricuspid regurgitation, Overlapping toe, Hypertelor...	OMIM:617402
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Obesity, Scoliosis, Brachydactyly	ORPHA:293987
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of the zygomatic b...	ORPHA:920
Familial Dysautonomia	Acrocyanosis, Scoliosis	ORPHA:1764
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Hypertelorism, Hypoplasia of the maxilla, Carious teeth, Split hand, Split foot, ...	OMIM:129900
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Patellar apl...	ORPHA:2554
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Transient ischemic attack, Absent thumb, Hypoplasia of the maxilla, Simplified gy...	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo...	OMIM:276820
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Short neck, Avascular necrosis of the capital ...	ORPHA:2044
Double Outlet Left Ventricle	Failure to thrive, Cyanosis	ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca...	OMIM:187300
Truncus Arteriosus	Intrauterine growth retardation, Cyanosis, Aplasia/hypoplasia involving bones of the extremities,...	ORPHA:3384
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Weight loss, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Aortic Arch Interruption	Left ventricular hypertrophy, Cyanosis	ORPHA:2299
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Pmm2-Cdg	Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc...	ORPHA:79318
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Clubbin...	OMIM:600376
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Failure to thrive, Cyanosis	ORPHA:99050
Goodpasture Syndrome	Cyanosis, Pallor, Weight loss	OMIM:233450
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis	ORPHA:238468
Primary Hyperoxaluria	Acrocyanosis, Failure to thrive, Cutis marmorata	ORPHA:416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation	OMIM:241200
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Conges...	OMIM:182250
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Hypoplastic sacrum, Hypoplasia of the maxilla, Carious teeth, Split hand, Split f...	OMIM:604292
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis...	ORPHA:2968
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te...	OMIM:610655
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Eisenmenger Syndrome	Hypoxemia, Cyanosis, Clubbing	ORPHA:97214
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Hypoplasia of the maxilla, Taurodontia	OMIM:305100
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Congenitally Corrected Transposition Of The Great Arteries	Failure to thrive, Cyanosis	ORPHA:216694
Arima Syndrome	Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly	OMIM:243910
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Primrose Syndrome	Hypertelorism, Metatarsus adductus, Hypoplasia of the maxilla, Genu valgum, Deeply set eye, Malar...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia	ORPHA:438213
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis, Pallor	ORPHA:99125
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500

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 Itgb1

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 Itgb1.

No publications found that use IMPC mice or data for Itgb1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Itgb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Itgb1^em1(IMPC)Bay	Exon Deletion	Mice
Itgb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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