Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Itgb1em1(IMPC)Bay HET Early adult 6.96×10-09
increased vertical activity Itgb1em1(IMPC)Bay HET Early adult 4.50×10-05
hyperactivity Itgb1em1(IMPC)Bay HET Early adult 4.55×10-05
preweaning lethality, complete penetrance Itgb1em1(IMPC)Bay HOM   Early adult 0.00

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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
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Acalvaria
Hypertelorism, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasi... ORPHA:945
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Thr... OMIM:187800
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Tapered finger, Scoliosis, Decreased muscle mass,... ORPHA:536516
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Frontal Encephalocele
Spina bifida, Hypertelorism, Encephalocele, Hydrocephalus ORPHA:1931
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
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Lambert Syndrome
Branchial anomaly, Malar flattening, Aplasia/Hypoplasia of the cerebellum ORPHA:1296
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Talipes equinovarus, Spina bifida, Hypertelorism OMIM:211960
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal amyotrophy,... OMIM:605820
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Amish Lethal Microcephaly
Ventriculomegaly, Micrognathia, Lissencephaly, Spina bifida, Cerebellar vermis hypoplasia ORPHA:99742
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Aminopterin/Methotrexate Embryofetopathy
Proptosis, Finger syndactyly, Hypertelorism, Aplasia/Hypoplasia of the thumb, Anencephaly, Microg... ORPHA:1908
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, H... OMIM:256030
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Thoracic kyphoscoliosis, Cyanosis, Abnormality of the mus... ORPHA:98913
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Weakness of orbicula... OMIM:500002
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Abnormality of dental eruption, Short distal phalanx of finger, Sp... ORPHA:1327
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Chiari malformation, Gray matter heterotopia, Spina bifida, Hydr... OMIM:207950
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:2476
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Acute Peripheral Arterial Occlusion
Pallor, Limb muscle weakness ORPHA:90064
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Tapered finger, Short finger, Death in childhood OMIM:302000
Neu-Laxova Syndrome
Proptosis, Abnormal cortical gyration, Trismus, Cerebellar hypoplasia, Ventriculomegaly, Microgna... ORPHA:2671
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Flexion contracture, Kyphosis, Long toe, Short neck,... ORPHA:75840
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Myopathy ORPHA:91130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Tremor OMIM:619470
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Muscle fiber splitting OMIM:609524
Czeizel-Losonci Syndrome
Myelomeningocele, Clubbing of toes, Micrognathia, Thickened nuchal skin fold, Ectrodactyly, Spina... ORPHA:2437
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Growth delay, Pulmonic stenosis, Pleural effusion, Pul... ORPHA:2414
Fountain Syndrome
Brachydactyly, Craniofacial hyperostosis, Abnormal metacarpal morphology, Short distal phalanx of... ORPHA:3219
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Abnormal dense granule content, Prolonged bleeding time, Abnormal ... OMIM:601399
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Hyperlordosis, Scoliosis, Rimmed vacuoles, Calf muscle hypertrophy OMIM:617760
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:612716
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestiv... ORPHA:363705
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Tremor OMIM:300983
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Pelvis-Shoulder Dysplasia
Absent proximal finger flexion creases, Aplasia/Hypoplasia of the fibula, Dislocated radial head,... ORPHA:2839
Isolated Klippel-Feil Syndrome
Webbed neck, Short neck, Spina bifida, Low posterior hairline, Congenital muscular torticollis ORPHA:2345
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Myopathy, X-Linked, With Postural Muscle Atrophy
Short neck, Rimmed vacuoles, Scapular winging, Flexion contracture OMIM:300696
Iniencephaly
Myelomeningocele, Syringomyelia, Cystic hygroma, Absent vertebra, Rocker bottom foot, Rhizomelia,... ORPHA:63259
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Proximal amyotrophy, Myopathy, Scapular winging OMIM:618129
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Schisis Association
Micromelia, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... OMIM:139090
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Shoulder girdle muscle weakness, Angulated muscle fibers, Weakness of facial mu... OMIM:619477
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Ventriculomegaly, Short distal phala... ORPHA:1120
Branchiogenic-Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Branchial fistula, Trismus OMIM:609166
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Hyperlordosis, Scolio... OMIM:616228
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Nemaline bodies, Foot dorsiflexor weakness, Ske... OMIM:616852
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Scoliosis, Inte... OMIM:618654
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
X-Linked Mandibulofacial Dysostosis
Webbed neck, Pulmonic stenosis, Micrognathia, Hypoplasia of the zygomatic bone, Branchial anomaly ORPHA:1131
Mosaic Trisomy 9
Webbed neck, Hypotelorism, Short neck, Cystic hygroma, Hypertelorism, Rocker bottom foot, Ventric... ORPHA:99776
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Anophthalmia Plus Syndrome
Spina bifida, Hypertelorism, Deviation of finger ORPHA:1104
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Int... ORPHA:555874
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Prolong... OMIM:231200
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Morm Syndrome
Hyperactivity ORPHA:75858
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Kyphosis, Platyspondyly ORPHA:2786
Retinitis Pigmentosa 42
Pallor OMIM:612943
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Proptosis, Chiari malformation, Hypoplasia of the maxilla, Malar flattening, Hydro... ORPHA:93262
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging ORPHA:2901
Caudal Duplication
Spina bifida, Myelomeningocele, Spinal cord lesion ORPHA:1756
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Kyphosis, Small for gestational age, Adducted thumb, Scoliosis, Arthrogrypos... OMIM:618484
Juvenile Huntington Disease
Dystonia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-based gait ORPHA:248111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Tapered finger, Mandibular prognathia, Camptodactyly ORPHA:435938
Retinitis Pigmentosa 60
Pallor OMIM:613983
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Deeply set eye, Cervical spina bifida, Short neck, Low posterior hairline OMIM:600122
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Edema, Pericardial effusion, Ascites OMIM:608776
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Slender build, Increased variability in muscle fiber diamet... ORPHA:171439
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Holoprosencephaly
Brachydactyly, Deeply set eye, Hypotelorism, Short neck, Hypertelorism, Arrhythmia, Spinal cord t... ORPHA:2162
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Hypoplastic frontal sinuses, Hypertelorism, Cranium bifidum occultum... OMIM:136760
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Abnormal muscle fiber morphology ORPHA:270
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Micrognathi... OMIM:274000
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Optic Atrophy 9
Pallor OMIM:616289
Diabetic Embryopathy
Micrognathia, Spinal dysraphism, Hydrocephalus, Abnormality of the neck, Aplasia/Hypoplasia of th... ORPHA:1926
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Bilateral talipes equinovarus, Short neck, Intrauterine growth retardation, Failure to thrive in ... ORPHA:284417
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:300816
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles OMIM:606353
Peripheral Cone Dystrophy
Pallor OMIM:609021
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Subependymal Nodular Heterotopia
Myelomeningocele, Occipital encephalocele, Nasofrontal encephalocele, Gray matter heterotopia, Po... ORPHA:101030
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Flat capital femoral epiphysis, Metaphyseal irregularity, Narrow femoral neck, Dislocated radial ... OMIM:603546
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Abnormal morphology of ulna, Short tibia, Short toe, Genu valgu... ORPHA:93323
Dystonia 31
Abnormal posturing OMIM:619565
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Shoulder girdle muscle atrophy, Limb muscle weakness, Lumbar hyperlordo... OMIM:167320
Cyanosis And Hepatic Disease
Cyanosis, Clubbing OMIM:219400
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrop... OMIM:181405
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Greig Cephalopolysyndactyly Syndrome
Postaxial foot polydactyly, Preaxial foot polydactyly, 1-3 toe syndactyly, Broad hallux, Preaxial... OMIM:175700
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Limited neck flexion, Proximal lowe... ORPHA:437572
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Mandibular prognathia ORPHA:894
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Cerebellar atrophy, Hydrocephalus OMIM:618302
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Clinodactyly, Webbed neck, Flexion contracture, Kyphosis, Short neck, Increase... ORPHA:178148
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Flexion contracture, Kyphosis, Congenital muscular dystrophy, Slende... OMIM:254090
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Sirenomelia
Absence of the sacrum, Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Branchiootic Syndrome 1
Branchial fistula, Retrognathia OMIM:602588
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycar... OMIM:618775
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Facial palsy, Rimmed vacuoles, S... OMIM:603511
Neu-Laxova Syndrome 1
Clinodactyly, Cerebellar hypoplasia, Micrognathia, Micromelia, Dandy-Walker malformation, Spina b... OMIM:256520
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Mild postnatal growth retardation, Pleural effusion, Lymphedema, Periorbita... OMIM:235510
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Failure to thrive, Generalized limb muscle atrophy OMIM:600462
King-Denborough Syndrome
Minicore myopathy, Webbed neck, Thoracic kyphosis, Short neck, Type 1 muscle fiber predominance, ... OMIM:619542
Miyoshi Muscular Dystrophy 1
Lower limb muscle weakness, Distal amyotrophy, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Pericardial Effusion, Chronic
Constrictive pericarditis, Pericardial effusion OMIM:260900
Myopathy, Distal, 3
Split hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotrophy, Rimmed vacuoles,... OMIM:610099
Optic Atrophy 1
Pallor OMIM:165500
Trisomy 20P
Brachydactyly, Short neck, Finger syndactyly, Hypertelorism, Micrognathia, Spina bifida, Preaxial... ORPHA:261318
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Angioedema, Pleural effusion, Small vessel vasculitis, Ascites, ... ORPHA:36412
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Hyperlordosis, Scoliosis, Torticollis, Abnormal posturing OMIM:128100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Anencephaly, Ventriculomegaly, Micrognathia, Postaxial hand polydacty... OMIM:614120
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Hyperlordosis, Type 1 muscle fiber predominanc... OMIM:160150
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Dry skin, Increased variability in muscle fiber d... ORPHA:486815
Aicardi-Goutieres Syndrome 9
Portal hypertension, Intrauterine growth retardation, Ascites, Edema, Increased blood pressure, H... OMIM:619487
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Pleural effusion, Polyhydramnios, Cardiomyopathy, Feta... ORPHA:292
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Bidirectional ventricula... OMIM:170390
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Myopathy, Centronuclear, 2
Flexion contracture, Kyphosis, Generalized amyotrophy, EMG: myopathic abnormalities, Hyperlordosi... OMIM:255200
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Scoliosis, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Shoulder girdle muscle wea... OMIM:601846
Aarskog-Scott Syndrome
Short neck, Delayed eruption of teeth, Finger syndactyly, Short palm, Hypertelorism, Clinodactyly... ORPHA:915
Neurocutaneous Melanocytosis
Syringomyelia, Ventriculomegaly, Chiari malformation, Dandy-Walker malformation, Intracranial hem... ORPHA:2481
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Talipes equinovar... ORPHA:597
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Impaired collagen-... OMIM:619374
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Hyperactivity, Broad-based gait, Tremor ORPHA:3077
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Tetrasomy 5P
Cyanosis, Short neck, Clinodactyly of the 5th finger, Short hallux, Long fingers, Failure to thri... ORPHA:3309
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Ventriculomegaly, Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Hyperte... OMIM:109120
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Hypoplasia of the ... OMIM:166300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Cystic hygroma, Macroglossia, Scoliosis, Failure to thrive, Incr... ORPHA:453499
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity OMIM:616977
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Absence of the sacrum, Hydrocephalus, Spina bifida occulta OMIM:182940
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Hydrocephalus OMIM:617822
Trisomy 18
Webbed neck, Hypertelorism, Deviation of finger, Anencephaly, Chiari malformation, Spina bifida, ... ORPHA:3380
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of the hand or of fingers of the hand, Malar flattenin... OMIM:122880
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Ventriculomegaly, Hypoplasia of the maxilla, Malar flattening, Br... ORPHA:261295
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Patent for... ORPHA:26793
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... OMIM:607855
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Ankle flexion co... OMIM:617072
Glycine Encephalopathy
Hyperactivity OMIM:605899
Cerebrocostomandibular Syndrome
Webbed neck, Myelomeningocele, Clinodactyly of the 5th finger, Hydranencephaly, Micrognathia, Spi... ORPHA:1393
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Tremor OMIM:618718
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cerebellar hypoplasia, Rhizomelic arm shortening, Proximal fe... ORPHA:397715
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Rimmed vacuoles, Myopathy, Limb-girdle muscular d... OMIM:612937
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities,... OMIM:253601
Crouzon Syndrome
Cerebellar hypoplasia, Chiari malformation, Hypoplasia of the maxilla, Hydrocephalus, Hypertelori... ORPHA:207
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Aicardi Syndrome
Missing ribs, Dilated third ventricle, Prominence of the premaxilla, Chiari malformation, Gray ma... OMIM:304050
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Vacterl With Hydrocephalus
Hypoplasia of the radius, Micrognathia, Absence of the sacrum, Spina bifida, Retrognathia, Hydroc... ORPHA:3412
Bethlem Myopathy
Curved toe phalanx, Reduced muscle collagen VI, Scoliosis, Scapular winging, Flexion contracture,... ORPHA:610
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Limite... ORPHA:324604
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Basal Cell Nevus Syndrome
Brachydactyly, Irregular ossification of hand bones, Short distal phalanx of the thumb, Short 4th... OMIM:109400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pleural effusion, Elevated pulmonary artery pressure, Pedal edema, H... ORPHA:199241
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Jackson-Weiss Syndrome
Proptosis, Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly,... ORPHA:1540
Branchiogenic Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the... ORPHA:50815
Gaucher Disease Type 1
Abnormal myocardium morphology, Growth delay, Pulmonary arterial hypertension, Pedal edema, Ascit... ORPHA:77259
Retinitis Pigmentosa 70
Pallor OMIM:615922
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Salih Myopathy
Flexion contracture, Scoliosis, Myopathy, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:611705
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Lumbar hyperlordosis, Scoliosis, Failure to thrive, Type 1 fibers relativ... OMIM:255310
Retinitis Pigmentosa 27
Pallor OMIM:613750
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Campomelic Dysplasia
Absent sternal ossification, Fibular hypoplasia, 11 pairs of ribs, Micrognathia, Spina bifida, Ha... OMIM:114290
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short neck, 2-3 toe syndactyly, Duplication of phalanx of hand, Short palm, Aortic regurgitation,... ORPHA:508498
Marinesco-Sjogren Syndrome
Flexion contracture, Coxa valga, Kyphosis, Skeletal muscle atrophy, Short metacarpal, Short metat... OMIM:248800
Limb Body Wall Complex
Short umbilical cord, Bilateral talipes equinovarus, Aplasia of the proximal phalanges of the han... ORPHA:2369
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Branchiootic Syndrome
Branchial fistula, Micrognathia ORPHA:52429
Pfeiffer Syndrome
Hydrocephalus, Finger syndactyly, Shallow orbits, Shortening of all middle phalanges of the finge... OMIM:101600
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of the 5th finger, Micrognathia,... ORPHA:84
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Skeletal muscle atrophy OMIM:617070
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Micrognathia, Dandy-Walker malformation... OMIM:225790
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Myelomeningocele, Short neck, Short distal phalanx of finger, Hydrocephalus, Hyper... ORPHA:1914
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Increased body weight ORPHA:276608
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity OMIM:274270
Rare Circulatory System Disease
Cyanosis, Thoracic kyphosis, Abnormal hand morphology, Pallor, Elbow flexion contracture, Abnorma... ORPHA:98028
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Rimmed vacuoles, Calf muscle hypertrophy ORPHA:263494
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Scoli... OMIM:255160
Distal 22Q11.2 Microduplication Syndrome
Deeply set eye, Webbed neck, Toe syndactyly, Tapered finger, Tricuspid regurgitation, Micrognathi... ORPHA:261337
Jacobsen Syndrome
Webbed neck, Toe syndactyly, Missing ribs, Short neck, Toe clinodactyly, Finger syndactyly, Hand ... ORPHA:2308
Acute Interstitial Pneumonia
Pleural effusion, Hypertension, Peripheral edema, Pericardial effusion ORPHA:79126
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hallermann-Streiff Syndrome
Supernumerary tooth, Micrognathia, Natal tooth, Pulmonary arterial hypertension, Spina bifida, Ma... OMIM:234100
Arnold-Chiari Malformation Type Ii
Cyanosis, Hand muscle atrophy, Myelomeningocele, Upper limb muscle weakness, Hydrocephalus, Aqued... ORPHA:1136
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystrophy, Hyperlor... OMIM:253700
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Raynaud phenomenon, Edema, Pericardial effusion ORPHA:93552
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Unsteady gait, Dysdiadochokinesis, Truncal a... ORPHA:228360
Nail-Patella Syndrome
Disproportionate prominence of the femoral medial condyle, Absent distal interphalangeal creases,... OMIM:161200
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Cutaneous finger syndactyly, Split hand, S... OMIM:183802
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Brachydactyly, Deeply set eye, Short palm, Ventriculomegaly, Branchial anomaly, Hypertelorism, Pr... ORPHA:466950
Hemoglobin D Disease
Pallor ORPHA:90039
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Tethered cord, Mitral stenosis, Aor... OMIM:617660
Triploidy
Short neck, Finger syndactyly, Hypertelorism, Micrognathia, Hydrocephalus, Holoprosencephaly, Men... ORPHA:3376
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Hyperlordosis, Myopathy, Muscle fiber atrophy ORPHA:369840
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Bor Syndrome
Branchial cyst, Retrognathia ORPHA:107
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Hypertelorism, Mandibular prognathia OMIM:193500
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age ORPHA:324575
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Primary Intestinal Lymphangiectasia
Pleural effusion, Growth delay, Ascites, Edema, Generalized edema, Pericardial effusion ORPHA:90362
Focal Dermal Hypoplasia
Toe syndactyly, Finger syndactyly, Short ribs, Short clavicles, Hand polydactyly, Telangiectasia ... ORPHA:2092
Lateral Meningocele Syndrome
Proptosis, Syringomyelia, Short neck, Hypertelorism, Craniofacial hyperostosis, Dural ectasia, Ch... ORPHA:2789
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Oligomeganephronia
Branchial cyst, Small for gestational age, Congenital diaphragmatic hernia ORPHA:2260
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vertebral segmentation defect, Cystic hygroma, Macroglossia, Scoliosis, Type 1 muscle fiber atrop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vertebral segmentation defect, Cystic hygroma, Macroglossia, Scoliosis, Type 1 muscle fiber atrop... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Apert Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Delayed eruption of teeth, Aplasia/Hypoplasia o... ORPHA:87
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex con... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex con... ORPHA:98914
Histidinemia
Hyperactivity ORPHA:2157
Dravet Syndrome
Tibial torsion, Pallor, Limited neck range of motion, Cyanotic episode ORPHA:33069
Distal 22Q11.2 Microdeletion Syndrome
Bowing of the long bones, Toe syndactyly, Deeply set eye, Coxa valga, Short palm, Aortic regurgit... ORPHA:261330
Apnea, Central Sleep
Cyanosis OMIM:207720
Pde4D Haploinsufficiency Syndrome
Brachydactyly, Hypotelorism, Bilateral coxa valga, Short metacarpal, Upper limb undergrowth, Shor... ORPHA:439822
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Malar flattening, Branchial fistula, Abnormal dental ena... ORPHA:861
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Myopathy, Increased muscle glycogen content, Increased mu... ORPHA:254864
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Fanconi Anemia, Complementation Group I
Absent thumb, Decreased body weight, Short neck, Intrauterine growth retardation, Hypoplasia of t... OMIM:609053
Myopathy, Mitochondrial, And Ataxia
Pallor, Scoliosis, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Intrauterine growth retardation, Patellar hypoplasia, Failure to thrive, Abn... ORPHA:2257
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Jaundice OMIM:613839
Aymé-Gripp Syndrome
Patent ductus arteriosus, Short stature, Hydrocephalus, Postnatal growth retardation, Pericarditi... ORPHA:1272
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Diastomatomyelia, Missing ribs, Meningocele ORPHA:1759
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Growth delay, M... ORPHA:77261
Branchiootorenal Syndrome 1
Branchial cyst, Facial palsy, Branchial fistula OMIM:113650
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Deeply set eye, Clinodactyly, Short palm, Tapered finger, Hypoplasia of the maxilla, Camptodactyl... ORPHA:85279
Meckel Syndrome, Type 4
Bowing of the long bones, Anencephaly, Dandy-Walker malformation, Agenesis of cerebellar vermis, ... OMIM:611134
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Cap Myopathy
Lower limb amyotrophy, Thoracic scoliosis, Lower limb muscle weakness, Generalized amyotrophy, In... ORPHA:171881
Andersen-Tawil Syndrome
Torsade de pointes, Premature ventricular contraction, Micrognathia, Bidirectional ventricular ec... ORPHA:37553
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor ORPHA:276556
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Splenomegaly, Spinal dysraphism, Tethered cord, Macrodactyly OMIM:612918
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Impaired platelet aggregation, Abnormal platelet morphology OMIM:300835
Wildervanck Syndrome
Webbed neck, Meningocele, Short neck, Low posterior hairline ORPHA:3456
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
22Q11.2 Deletion Syndrome
Foot polydactyly, Gastrointestinal hemorrhage, Micrognathia, Spina bifida, Hypoplasia of the thym... ORPHA:567
Congenital Vertical Talus
Rocker bottom foot, Myelomeningocele, Equinus calcaneus ORPHA:178382
Retinitis Pigmentosa 73
Pallor OMIM:616544
Acrocephalopolysyndactyly Type Iii
Short neck, Shallow orbits, Broad hallux, Hypoplasia of the maxilla, Preaxial hand polydactyly, L... OMIM:101120
Poems Syndrome
Pleural effusion, Pulmonary arterial hypertension, Ascites, Edema, Pericardial effusion ORPHA:2905
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Weight loss, Muscular edema ORPHA:3165
Gand Syndrome
Hyperactivity OMIM:615074
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor ORPHA:276575
Mohr Syndrome
Brachydactyly, Hydrocephalus, Metaphyseal irregularity, Partial duplication of the phalanges of t... OMIM:252100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Proptosis ORPHA:2776
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor ORPHA:276580
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Missing ribs, Hypertelorism, Chiari malfor... ORPHA:2462
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Jaundice, Syndactyly OMIM:615631
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Q Fever
Abnormal heart valve morphology, Abnormal left ventricular function, Endocarditis, Myocarditis, P... ORPHA:781
Frontorhiny
Brachydactyly, Hypoplastic frontal sinuses, Cranium bifidum occultum, Basal encephalocele, Hypopl... ORPHA:391474
Meckel Syndrome, Type 2
Bowing of the long bones, Anencephaly, Polydactyly, Dandy-Walker malformation, Postaxial hand pol... OMIM:603194
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Deeply set eye, Slender long bones with narrow diaphyses, Short femoral neck, Metaphyseal striati... OMIM:608154
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Flared metaphysis, Short middle phalanx of the 2nd finger, Hypoplasia of th... OMIM:156510
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Proptosis OMIM:608432
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis ORPHA:3265
Atelosteogenesis, Type Iii
Short neck, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Micrognathia, Hypopl... OMIM:108721
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Dystonia ORPHA:500180
Acromelic Frontonasal Dysplasia
Hypertelorism, Patellar hypoplasia, Retrocerebellar cyst, Ventriculomegaly, Aplasia/Hypoplasia of... ORPHA:1827
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Epistaxis, Pleural effusion, Epidural hemorrhage, Pericardial effusion ORPHA:464329
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Ventriculomegaly, Hypoplasia of the maxilla, Long fingers, Hy... OMIM:218000
Non-Functioning Paraganglioma
Pallor, Flushing, Weight loss ORPHA:94080
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Tapered finger, Joint contracture of the 5th finger, Long fingers... OMIM:614407
Fucosidosis
Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Failure to thrive, Acr... ORPHA:349
Pycnodysostosis
Brachydactyly, Acromelia, Hepatosplenomegaly, Enamel hypoplasia, Rhizomelia, Osteolytic defects o... ORPHA:763
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Generalized amyotrophy, Facial diplegia, Hyperlordosis, Type 1 muscle fiber pre... ORPHA:169186
Craniosynostosis And Dental Anomalies
Clinodactyly, Delayed eruption of teeth, 2-3 toe syndactyly, Short phalanx of finger, Supernumera... OMIM:614188
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Lowry-Maclean Syndrome
Micrognathia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Talon cusp, Retrognat... ORPHA:2409
Hereditary Folate Malabsorption
Pallor, Failure to thrive, Skeletal muscle atrophy ORPHA:90045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Delayed eruption of teeth, Short ... ORPHA:950
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Cardiomyopathy, Pericardial effusion OMIM:212065
Cartilage-Hair Hypoplasia
Bowing of the long bones, Abnormal distal phalanx morphology of finger, Short neck, Short palm, R... ORPHA:175
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Tremor ORPHA:363400
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla ORPHA:1529
Pagod Syndrome
Arrhythmia, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meningocele, Abnormali... ORPHA:991
Lateral Meningocele Syndrome
Syringomyelia, Short neck, Hypertelorism, Dural ectasia, Micrognathia, Malar flattening, Chiari t... OMIM:130720
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Rheumatic Fever
Pallor, Erythema, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3099
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Osteolytic def... OMIM:601812
Alg9-Cdg
Right ventricular dilatation, Rhizomelia, Hydrops fetalis, Atrial septal defect, Abnormal heart m... ORPHA:79328
Classical-Like Ehlers-Danlos Syndrome Type 2
Umbilical hernia, Mitral valve prolapse, Pericardial effusion ORPHA:536532
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Short neck ORPHA:66637
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Axenfeld-Rieger Syndrome, Type 2
Hypertelorism, Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus, Umbilical hernia OMIM:601499
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Hematochezia, Pleural effusion, Polyhydramnios, Ascites, Pericardial effusion OMIM:618183
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Evans Syndrome
Pallor, Bruising susceptibility, Petechiae, Jaundice ORPHA:1959
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... OMIM:615422
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Split hand OMIM:246560
Leishmaniasis
Pallor, Skin ulcer, Weight loss ORPHA:507
Neurofibromatosis, Type I
Hypertelorism, Tibial pseudarthrosis, Spina bifida, Hypertension, Hydrocephalus, Aqueductal steno... OMIM:162200
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Right ventricular hypertrophy, Clubbing of fingers, Left ventr... ORPHA:335
Keipert Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Short hal... ORPHA:2662
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Steppage gait, Attention deficit hyperactivity disorder ORPHA:98818
Acrodysostosis 1 With Or Without Hormone Resistance
Brachydactyly, Hypertelorism, Delayed eruption of teeth, Short palm, Hypoplastic vertebral bodies... OMIM:101800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Scoliosis, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centra... OMIM:619518
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting OMIM:609452
Cloacal Exstrophy
Myelomeningocele, Abnormality of fibula morphology, Spina bifida, Absent foot, Abnormality of tib... ORPHA:93929
Myhre Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Atrial septal defect, Short stature, H... OMIM:139210
Coffin-Lowry Syndrome
Brachydactyly, Pseudoepiphyses of the metacarpals, Hypertelorism, Delayed eruption of teeth, Shor... ORPHA:192
Primary Myelofibrosis
Petechiae, Ecchymosis, Cachexia, Pallor, Purpura ORPHA:824
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480