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Gene: Itgb1 MGI:96610

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Gene Summary

Name:
integrin beta 1 (fibronectin receptor beta)
Synonyms:
Fnrb,  CD29,  beta1 integrin,  4633401G24Rik,  Gm9863

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Itgb1em1(IMPC)Bay HOM   Early adult 0.00
hyperactivity Itgb1em1(IMPC)Bay HET Early adult 7.36×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, 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, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bif... ORPHA:945
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Poor wound healing... ORPHA:536516
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida, Hypertelorism ORPHA:1931
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Talipes equinovarus, Spina bifida, Hypertelorism OMIM:211960
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Malar flattening ORPHA:1296
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Perching Syndrome
Camptodactyly, Scoliosis, Cyanosis, Joint contracture OMIM:617055
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Neu-Laxova Syndrome 2
Ventriculomegaly, Toe syndactyly, Proptosis, Finger syndactyly, Micrognathia, Cerebellar hypoplas... OMIM:616038
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Proptosis, Finger syndactyly, Micromelia, Micrognathia,... ORPHA:1908
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri... OMIM:115197
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... OMIM:155100
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina b... OMIM:207950
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Camptodactyly of ... ORPHA:1327
Neuralgic Amyotrophy
Upper limb muscle weakness, Redundant neck skin, Scapular winging, Acrocyanosis, Upper limb amyot... ORPHA:2901
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Micrognathia, Spina bifida, Lissencephaly ORPHA:99742
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Micrognathia, 2-3 finger... ORPHA:2437
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Ragged-red muscle fibers, Failure to thrive, Generalized amyotrophy OMIM:613561
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Neu-Laxova Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Proptosis, Micromelia, Retrognathia,... ORPHA:2671
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Fountain Syndrome
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... ORPHA:3219
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida, Deeply set eye OMIM:620439
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Micrognathia,... ORPHA:2839
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Short neck, Spina bifida ORPHA:2345
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limited neck flexion, Skeletal m... OMIM:300696
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Death in childhood, Short finger OMIM:302000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Myopathy ORPHA:91130
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi... OMIM:261740
Schisis Association
Micromelia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... ORPHA:75840
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Tricusp... ORPHA:1120
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Slender build, Limb muscle weakne... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Iniencephaly
Lissencephaly, Rhizomelia, Spinal dysraphism, Rocker bottom foot, Absent vertebra, Myelomeningoce... ORPHA:63259
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis,... OMIM:160500
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Verheij Syndrome
Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Short neck, Hemi... OMIM:615583
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Hypertelorism ORPHA:1104
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Mosaic Trisomy 9
Webbed neck, Ventriculomegaly, Rocker bottom foot, Micromelia, Finger clinodactyly, Camptodactyly... ORPHA:99776
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Trismus OMIM:609166
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis ORPHA:71518
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... OMIM:139090
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Joubert Syndrome 15
Exencephaly OMIM:614464
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... OMIM:601399
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
X-Linked Mandibulofacial Dysostosis
Webbed neck, Hypoplasia of the zygomatic bone, Micrognathia, Branchial anomaly, Pulmonic stenosis ORPHA:1131
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Carpal s... ORPHA:93320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis, Skeletal muscle hypertrophy OMIM:235000
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Diabetic Embryopathy
Spinal dysraphism, Micrognathia, Abnormality of the neck, Aplasia/Hypoplasia of the cerebellum, H... ORPHA:1926
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Pallor, Kyphosis ORPHA:2786
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Branchial cyst, Camptodactyly, Mandibular prognathia, Tapered finger ORPHA:435938
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Failure to thrive in infancy, Intrauterine growth retardation, Knee fl... ORPHA:284417
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Chiari malformation, Proptosis, Malar flattening, Abnormal metacarpal ... ORPHA:93262
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Hyperlordos... OMIM:600462
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Waardenburg Syndrome Type 1
Meningocele, Mandibular prognathia, Spina bifida ORPHA:894
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Neonatal death, Short neck, Hypert... OMIM:256520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Holoprosencephaly
Spinal dysraphism, Hypoplasia of the zygomatic bone, Abnormality of the spleen, Branchial anomaly... ORPHA:2162
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Chromosome 17P13.1 Deletion Syndrome
Webbed neck, Broad neck, Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Short neck,... OMIM:613776
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limit... OMIM:602771
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Abnormal posturing OMIM:304700
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Clinodactyly, ... OMIM:136760
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Hypoplasia of the pons, Retrognathia, Micrognathia, Malar flattening, ... OMIM:620157
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida ORPHA:3169
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Spinal dysraphism, Flared metaphysis, Hypoplasia of the capital f... OMIM:603546
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Trisomy 20P
Finger syndactyly, Umbilical hernia, Preaxial hand polydactyly, Camptodactyly of finger, Microgna... ORPHA:261318
Peripheral Cone Dystrophy
Pallor OMIM:609021
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Dystonia 31
Abnormal posturing OMIM:619565
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Congenital Vertical Talus
Abnormality of the foot musculature, Myelomeningocele, Equinus calcaneus, Distal arthrogryposis, ... ORPHA:178382
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla... OMIM:187900
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Atrial septal defect, Short stature... OMIM:620070
Branchiootic Syndrome 1
Branchial fistula, Retrognathia OMIM:602588
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Lymphedema, Mild postnatal growth retardation, Pleural effusion, Ventricular se... OMIM:235510
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Cerebellar atrophy, Hydrocephalus OMIM:618302
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Trisomy 18
Webbed neck, Microretrognathia, Deviation of finger, Chiari malformation, Camptodactyly of finger... ORPHA:3380
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma... ORPHA:36412
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Congenital Disorder Of Glycosylation, Type Il
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect OMIM:608776
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Webbed neck, Minicore myopathy, Failure to thrive, Mu... OMIM:619542
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Webbed neck, Increased endomysial connective tissue, Clinodactyly, Short neck,... ORPHA:178148
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Micrognathia, Hydrocephalus, Hypoplasia of the radius, Spina... ORPHA:3412
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Micrognathia, Spina bifida, Clinodactyly of the 5... ORPHA:1393
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Failure to thrive, Intrauterine growth retardation, Increased nuchal translucency, ... ORPHA:453499
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Tetrasomy 5P
Failure to thrive, Overlapping toe, Cyanosis, Redundant neck skin, Talipes equinovarus, Short nec... ORPHA:3309
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Polydactyly, Short ribs, Short 4th metacarpal, Hypertelorism, ... OMIM:109400
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Multiple joint contractures, Hyperlordosis, Torticollis, Facial palsy, Scolio... OMIM:128100
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Kyphosis, Clinodactyly,... OMIM:181405
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Intrauterine growth retardation, Talipes eq... OMIM:255200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Aicardi-Goutieres Syndrome 9
Ascites, Intrauterine growth retardation, Portal hypertension, Left ventricular hypertrophy, Peri... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Aarskog-Scott Syndrome
Small hand, Hypoplasia of the maxilla, Delayed eruption of teeth, Finger syndactyly, Umbilical he... ORPHA:915
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... OMIM:153670
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short 5th finger, Ventriculomegaly, Broad thumb, Microretrognathia, Broad h... ORPHA:508498
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Hallermann-Streiff Syndrome
Natal tooth, Dental malocclusion, Micrognathia, Malar flattening, Telangiectasia, Pulmonary arter... OMIM:234100
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Proptosis, Carpal osteolysis, Metacarpal osteolysis, Ulnar deviation o... OMIM:166300
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema OMIM:617822
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Hypertelorism, Py... ORPHA:84
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Wildervanck Syndrome
Webbed neck, Low posterior hairline, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Ventriculomegaly, Proptosis, Malar flattening, Hydrocephalus, Hypertel... OMIM:109120
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Ventriculomegaly, Broad thumb, Malar flattening, Wolff-Parkinson-White... ORPHA:261295
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of fing... ORPHA:2311
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Campomelic Dysplasia
Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Shortening of all phalanges ... OMIM:114290
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Crouzon Syndrome
Hypoplasia of the maxilla, Chiari malformation, Proptosis, Cerebellar hypoplasia, Hydrocephalus, ... ORPHA:207
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Ventriculomegaly, Toe syndactyly, Toe clinodactyly, Finger sy... ORPHA:2308
Phakomatosis Pigmentokeratotica
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida ORPHA:2874
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Nail-Patella Syndrome
Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Patellar aplasia, Hypoplasia of f... OMIM:161200
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Branchiogenic Deafness Syndrome
Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial... ORPHA:50815
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocepha... OMIM:614120
Dravet Syndrome
Limited neck range of motion, Pallor, Cyanotic episode, Tibial torsion ORPHA:33069
Cutis Laxa, Autosomal Recessive, Type Ib
Proptosis, Retrognathia, Tricuspid regurgitation, Micrognathia, Neonatal death, Arachnodactyly, B... OMIM:614437
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Umbilical hernia, Campto... ORPHA:2092
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Primary Pulmonary Hypoplasia
Failure to thrive, Patellar hypoplasia, Abnormal hemidiaphragm morphology, Intrauterine growth re... ORPHA:2257
Branchiootic Syndrome
Micrognathia, Branchial fistula ORPHA:52429
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pallor ORPHA:276608
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Symphalangism af... ORPHA:1540
Waardenburg Syndrome, Type 1
Myelomeningocele, Mandibular prognathia, Spina bifida, Hypertelorism OMIM:193500
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Optic Atrophy 1
Pallor OMIM:165500
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Tricuspid regurgitation,... ORPHA:261337
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Ventriculomegaly, Prominent fingertip pads, Branchial anomaly, Deeply set eye, Brachydactyly, Hyp... ORPHA:466950
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Punctate vertebral calcifications, Intrauterine... ORPHA:1914
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Bidirectional ventricular ectopy, Micrognathia, Hypertelorism, Short ... OMIM:170390
Classic Multiminicore Myopathy
Limited neck flexion, Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Increased musc... ORPHA:324604
Hemoglobin D Disease
Pallor ORPHA:90039
Bor Syndrome
Branchial cyst, Retrognathia ORPHA:107
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, ... ORPHA:261330
Carpenter Syndrome 1
Toe syndactyly, Genu valgum, Micrognathia, Short neck, Complete duplication of proximal phalanx o... OMIM:201000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Absence of the sacrum, Spinal dysraphism, Mitral stenosis, Tethered cord OMIM:617660
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Multi... ORPHA:610
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age ORPHA:324575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Myopathy, Mitochondrial, And Ataxia
Scoliosis, Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor OMIM:617675
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Talipes equinovarus, Radiou... OMIM:134780
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Retinitis Pigmentosa 51
Obesity, Pallor, Polydactyly OMIM:613464
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Apert Syndrome
Ventriculomegaly, Toe syndactyly, Broad thumb, Delayed eruption of teeth, Finger syndactyly, Micr... ORPHA:87
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Histidinemia
Hyperactivity ORPHA:2157
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Absent thumb, Short thumb, Intrauterine growth retardation, Pallor, Decreas... OMIM:609053
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Increased nuchal translucency, Branchial anomaly, Vertebral segmentation defect, Po... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Increased nuchal translucency, Branchial anomaly, Vertebral segmentation defect, Po... ORPHA:352665
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zygomatic bone, Retrognathia, Abn... ORPHA:861
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Kyphoscoli... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Kyphoscoli... ORPHA:98914
Cartilage-Hair Hypoplasia
Small hand, Spinal dysraphism, Rhizomelia, Micromelia, Cardiomyopathy, Abnormal diaphysis morphol... ORPHA:175
Rubinstein-Taybi Syndrome 1
Broad thumb, Micrognathia, Deeply set eye, Low posterior hairline, Talipes equinovarus, Hypertelo... OMIM:180849
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Myopathy ORPHA:588
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Carious teeth, Umbilical hernia, Abnormal denta... ORPHA:567
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Oligomeganephronia
Congenital diaphragmatic hernia, Small for gestational age, Branchial cyst ORPHA:2260
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor ORPHA:276556
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis ORPHA:2776
Branchiootorenal Syndrome 1
Facial palsy, Branchial fistula, Branchial cyst OMIM:113650
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Per... OMIM:259710
Pde4D Haploinsufficiency Syndrome
Hypotension, Hypoplasia of the maxilla, Short toe, Broad hallux, Upper limb undergrowth, Short mi... ORPHA:439822
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor ORPHA:276575
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Deeply set eye, Talipes equinov... ORPHA:85279
Pagod Syndrome
Abnormality of the spleen, Encephalocele, Abnormality of neuronal migration, Arrhythmia, Spina bi... ORPHA:991
Non-Functioning Paraganglioma
Weight loss, Pallor, Flushing ORPHA:94080
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor ORPHA:276580
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th fin... OMIM:614407
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Webbed neck, Spinal dysraphism, Sandal gap, Splenomegaly, Tethered cord OMIM:612918
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Pericardial effusion, Patent ductus a... ORPHA:1272
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Lumbar hyperlordosis,... ORPHA:171881
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Hypoplasia of the maxilla, Chiari malformation, Retrognathia, Proptosis, Umbili... ORPHA:2462
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Pallor, Syndactyly OMIM:615631
Eosinophilic Fasciitis
Myositis, Muscular edema, Weight loss, Acrocyanosis ORPHA:3165
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Radial bowing, Sandal... OMIM:108721
Q Fever
Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric... ORPHA:781
Neurofibromatosis, Type I
Genu valgum, Tibial pseudarthrosis, Hydrocephalus, Spina bifida, Hypertelorism, Aqueductal stenos... OMIM:162200
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Pericarditis OMIM:212065
Hereditary Folate Malabsorption
Pallor, Failure to thrive, Skeletal muscle atrophy ORPHA:90045
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Poems Syndrome
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Evans Syndrome
Jaundice, Bruising susceptibility, Pallor, Petechiae ORPHA:1959
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Del... ORPHA:77261
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydacty... OMIM:252100
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage ORPHA:464329
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... ORPHA:99827
Fucosidosis
Failure to thrive, Vascular skin abnormality, Decreased muscle mass, Anterior beaking of lumbar v... ORPHA:349
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Deeply set eye, ... OMIM:608154
Pycnodysostosis
Small hand, Rhizomelia, Chiari malformation, Carious teeth, Hypoplasia of the maxilla, Short fing... ORPHA:763
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Martsolf Syndrome 1
Ventriculomegaly, Hypoplasia of the maxilla, Broad femoral neck, Short toe, Cardiomyopathy, Conge... OMIM:212720
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Primary Myelofibrosis
Pallor, Petechiae, Ecchymosis, Cachexia, Purpura ORPHA:824
Leishmaniasis
Weight loss, Pallor, Skin ulcer ORPHA:507
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Umbilical hernia, Hydrocephalus, Hypertelorism, Mandibular prognathia OMIM:601499
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive OMIM:614857
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Failure to thrive ORPHA:444013
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Proptosis, Retrognathia, Micrognathia, Delayed eruption of primary tee... ORPHA:2409
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Rheumatic Fever
Erythema, Aplasia/Hypoplasia of the abdominal wall musculature, Pallor ORPHA:3099
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Hypertelorism, Abnormal morphology of t... ORPHA:950
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... OMIM:615846
Diamond-Blackfan Anemia 1
Webbed neck, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb... OMIM:105650
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v... ORPHA:335
Buerger Disease
Livedo reticularis, Acrocyanosis, Skin ulcer ORPHA:36258
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Pallor, Bruising susceptibility ORPHA:3226
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Hypertelorism, Camptodactyly of finger ORPHA:1529
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Alg9-Cdg
Rhizomelia, Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Ventricular sept... ORPHA:79328
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Skin ulcer, Failure to thrive in infancy, Genu valgum, Pallor, Bow... ORPHA:231226
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hepatosplenomegaly, Large placenta, Microgn... ORPHA:96334
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Arachnodactyly, Chiari... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Arachnodactyly, Chiari... ORPHA:363958
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Proptosis, Umbilical hernia, Genu valgum, Microgn... OMIM:182212
Greenberg Dysplasia
Postaxial foot polydactyly, Hepatosplenomegaly, Large placenta, Micrognathia, Neonatal death, Dia... OMIM:215140
Icf Syndrome
Umbilical hernia, Lymphopenia, Micrognathia, Communicating hydrocephalus, Hypertelorism, Anemia, ... ORPHA:2268
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ventriculomegaly, Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, Hypertelorism, Tap... OMIM:218000
Split-Hand/Foot Malformation 3
Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand OMIM:246560
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Pericardial effusion, Ventricular septal ... OMIM:139210
Coffin-Lowry Syndrome
Short distal phalanx of finger, Ventriculomegaly, Pseudoepiphyses of the metacarpals, Craniofacia... ORPHA:192
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long hallux, Cone-shap... OMIM:101800
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Cyanosis, Right ventricular hypertrophy, Hypoxemia ORPHA:860
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Sacral Defect With Anterior Meningocele
Hydromyelia, Tethered cord, Absence of the sacrum, Myelomeningocele, Myeloschisis, Hydrocephalus,... OMIM:600145
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Pachygyria, Hypoplasia of the maxilla, Subcortical band heterotopia OMIM:618737
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
Triploidy
Finger syndactyly, Intrauterine growth retardation, Short neck, Hydrocephalus, Macroglossia, Meni... ORPHA:3376
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Abnormal posturing ORPHA:216866
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pallor OMIM:613839
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Genu v... OMIM:216550
Sepsis In Premature Infants
Pallor, Petechiae, Cyanosis, Decreased body weight, Jaundice, Purpura, Small for gestational age ORPHA:90051
Crouzon Syndrome
Hypoplasia of the maxilla, Proptosis, Shallow orbits, Hydrocephalus, Hypertelorism, Mandibular pr... OMIM:123500
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger ORPHA:1759
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phala... ORPHA:1248
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Increased nuchal translucency, Cyanosis, Bow... OMIM:619879
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Failure to thrive OMIM:611590
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Beta-Thalassemia Major
Hypoplasia of the musculature, Skin ulcer, Failure to thrive in infancy, Genu valgum, Pallor, Bow... ORPHA:231214
Hb Bart'S Hydrops Fetalis
Pallor, Hydrocephalus ORPHA:163596
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Lateral Meningocele Syndrome
Decreased muscle mass, Umbilical hernia, Biconcave vertebral bodies, Short neck, Hydrocephalus, V... OMIM:130720
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Proptosis, Micromelia, Hypoplasia of the zygomatic bone... ORPHA:1798
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Torticollis, Hypertelorism, Tethered cord, Tapered finger OMIM:619480
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Arthrogryposis multipl... ORPHA:79321
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Clinodactyly, Pachygyria, Periventricular nodular... OMIM:601390
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... OMIM:603194
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Tricuspid Atresia
Cyanosis ORPHA:1209
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Broad hallux, Micrognathia, Aplasia of ... OMIM:620186
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis ORPHA:324636
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Cyanosis, 2-3 toe syndactyly, Severe failure to thrive, Clubbing of fingers ORPHA:3304
Cryptogenic Organizing Pneumonia
Hypoxemia, Weight loss, Cyanosis ORPHA:1302
8Q24.3 Microdeletion Syndrome
Short 5th finger, Gastrointestinal hemorrhage, Microretrognathia, Branchial cyst, Micromelia, Fin... ORPHA:508488
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Hypertelo... OMIM:614261
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age, Pallor ORPHA:263455
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlapping toe, Deeply set... OMIM:613406
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Idiopathic Pulmonary Hemosiderosis
Pallor, Failure to thrive ORPHA:99931
Aarskog-Scott Syndrome
Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Clinodactyly, Ra... OMIM:305400
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, Pericardial effusion, Hydrop... ORPHA:2136
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Cyanosis, Death in infancy, Neonatal death, Clubbing OMIM:265120
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the maxilla, Micrognathia, Talipes ... ORPHA:314679
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Umbilical hernia, Abnormal metacarpal ... ORPHA:2095
Fliedner-Zweier Syndrome
Obesity, Hallux valgus, Meningocele, Scoliosis, Kyphosis OMIM:620511
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, ... OMIM:601812
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Fanconi Anemia, Complementation Group C
Anterior wedging of T12, Absent thumb, Short thumb, Bruising susceptibility, Intrauterine growth ... OMIM:227645
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Proptosis ORPHA:90653
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hy... OMIM:259600
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Chédiak-Higashi Syndrome
Pericardial effusion, Epistaxis, Pleural effusion, Edema ORPHA:167
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Arachnodactyly, Brachydactyly ORPHA:776
Laryngeal Abductor Paralysis