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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
hyperactivity Itgb1em1(IMPC)Bay HET Early adult 7.13×10-05
preweaning lethality, complete penetrance Itgb1em1(IMPC)Bay HOM   Early adult 0.00
increased vertical activity Itgb1em1(IMPC)Bay HET Early adult 8.31×10-05
increased startle reflex Itgb1em1(IMPC)Bay HET Early adult 3.15×10-07

Download data as:  TSV  XLS

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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
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
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Spina bifida, Hydrocepha... ORPHA:945
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... OMIM:187800
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Frontal Encephalocele
Spina bifida, Hypertelorism, Hydrocephalus, Encephalocele ORPHA:1931
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Myopathic Ehlers-Danlos Syndrome
Foot joint contracture, Flexion contracture, Multiple joint contractures, Elbow flexion contractu... ORPHA:536516
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... OMIM:616199
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
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... ORPHA:611
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly ORPHA:1296
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Hypertelorism OMIM:211960
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... OMIM:605820
Perching Syndrome
Cyanosis, Joint contracture, Camptodactyly, Scoliosis OMIM:617055
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... ORPHA:1908
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydrocephalus, Syri... OMIM:207950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:155100
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps we... ORPHA:98913
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Neu-Laxova Syndrome 2
Ventriculomegaly, Cerebellar hypoplasia, Spina bifida, Micrognathia, Lissencephaly, Hypertelorism... OMIM:616038
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Myopathy, Distal, 5
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... OMIM:620068
Amish Lethal Microcephaly
Ventriculomegaly, Spina bifida, Micrognathia, Lissencephaly, Cerebellar vermis hypoplasia ORPHA:99742
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Dystonia, Ataxia OMIM:615924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor OMIM:618090
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius ORPHA:2476
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ragged-red muscle fibers, Generalized amyotrophy, Pallor OMIM:613561
Nemaline Myopathy 2
Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber... OMIM:256030
Camptodactyly Syndrome, Guadalajara Type 1
Short toe, Dental malocclusion, Mandibular prognathia, Spina bifida, Abnormality of dental erupti... ORPHA:1327
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Pallor ORPHA:90064
Isolated Klippel-Feil Syndrome
Webbed neck, Spina bifida, Short neck, Low posterior hairline, Congenital muscular torticollis ORPHA:2345
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neu-Laxova Syndrome
Retrognathia, Abnormality of neuronal migration, Abnormal cortical gyration, Cerebellar hypoplasi... ORPHA:2671
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Limited neck flexion, Achilles tendon contracture... OMIM:300696
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Multiminicore Myopathy
Congenital muscular dystrophy, Abnormal muscle fiber morphology, Failure to thrive, Myopathy, Min... ORPHA:598
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Myopathy ORPHA:91130
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... OMIM:261740
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Sho... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Broad-based gait OMIM:619470
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Hyperlordosis, Increased variability in muscle fiber diameter, Muscle fiber splitting, Centrally ... OMIM:617760
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... OMIM:601399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Schisis Association
Spina bifida, Anencephaly, Encephalocele, Micromelia ORPHA:63862
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Craniofaciofrontodigital Syndrome
Patent ductus arteriosus, Pulmonary arterial hypertension, Polyhydramnios, Cardiomegaly, Persiste... ORPHA:363705
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor ORPHA:79283
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Spina bifida, Micrognathi... ORPHA:2839
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele ORPHA:1756
Fountain Syndrome
Spina bifida, Craniofacial hyperostosis, Spina bifida occulta, Hypertelorism, Short distal phalan... ORPHA:3219
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Micrognathia, Hydrocephalus, Spina bifida occulta, Thickened nuch... ORPHA:2437
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ky... ORPHA:75840
Iniencephaly
Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia, Spina bifida,... ORPHA:63259
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Micrognathia, Hypoplasia of the zygomatic bone, Pulmonic stenosis ORPHA:1131
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... ORPHA:178400
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia OMIM:300983
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Acropectorovertebral Dysplasia
Spina bifida, Short distal phalanx of finger ORPHA:957
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Anophthalmia Plus Syndrome
Spina bifida, Hypertelorism ORPHA:1104
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy, Myelomeningocele, Scoliosis OMIM:235000
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... OMIM:618414
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Spina bifida, Short distal phalanx of finger, Short thumb, Tricuspid regurgitation ORPHA:1120
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Branchiogenic-Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Branchial fistula, Trismus OMIM:609166
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Abnormality of the neck, Spinal dysraphism, Micrognathia, H... ORPHA:1926
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Hyperlordosis, Limb-girdle muscle weakness, Increased variability in mu... OMIM:616228
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia ORPHA:382
Mosaic Trisomy 9
Asplenia, Webbed neck, Ventriculomegaly, Spina bifida, Micrognathia, Hypertelorism, Short neck, C... ORPHA:99776
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Generalized amyotrophy, Lumbar hyperlordosis, Shoulder girdle muscle weakness, Pelvic girdle amyo... OMIM:167320
Myopathy, Scapulohumeroperoneal
Hyperlordosis, Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated sk... OMIM:616852
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Kyphosis, Platyspondyly ORPHA:2786
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... OMIM:231200
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... ORPHA:276435
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Waardenburg Syndrome Type 1
Meningocele, Mandibular prognathia, Spina bifida ORPHA:894
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Increased variability in muscle fiber diameter, Muscle fiber splitting, Fatty repl... OMIM:618129
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology OMIM:608776
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Myopathy, Centronuclear, 1
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial palsy, EMG... OMIM:160150
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based gait ORPHA:248111
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... OMIM:615424
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hyperlordosis, Generalized limb muscle atrophy, Pallor, Failure to thrive, Scapular winging, Ragg... OMIM:600462
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
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
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Knee flexion contracture, Cyanotic episode, Short neck, Limb joint contracture, Ankle flexion con... ORPHA:284417
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Decreased body weight, Centr... OMIM:602771
Peripheral Cone Dystrophy
Pallor OMIM:609021
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Intrinsic hand muscle atrophy OMIM:304700
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Deeply set eye, Branchial anomaly, Encep... ORPHA:2162
Dystonia 31
Abnormal posturing OMIM:619565
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Sirenomelia
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum ORPHA:3169
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... OMIM:187900
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Hydrocephalus, Hypoplasia of the maxil... ORPHA:93262
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber ... OMIM:253700
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Branchiootic Syndrome 1
Retrognathia, Branchial fistula OMIM:602588
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Hyperlordosis, Muscle fiber splitting, Increased variability in muscle ... ORPHA:437572
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Short stature, Pericardial effusion, Atrial septal defect, Multiple muscular vent... OMIM:620070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Lymphedema, Pericardial effusion, Mild postnatal growth retardation, N... OMIM:235510
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus, Hypoplasia of the maxilla OMIM:618302
Cone-Rod Dystrophy 11
Pallor OMIM:610381
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Mandibular prognathia ORPHA:435938
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Optic Atrophy 1
Pallor OMIM:165500
Hypocomplementemic Urticarial Vasculitis
Angioedema, Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Abnormal he... ORPHA:36412
Trisomy 20P
Spina bifida, Micrognathia, Hypertelorism, Short neck, Low posterior hairline, Umbilical hernia ORPHA:261318
King-Denborough Syndrome
Webbed neck, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibers, Thoracic kyphosis,... OMIM:619542
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascit... ORPHA:292
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Vacterl With Hydrocephalus
Retrognathia, Aqueductal stenosis, Absence of the sacrum, Spina bifida, Micrognathia, Arrhinencep... ORPHA:3412
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Vertebral segmentation defect, Macroglossia, Failure to thrive, Scoliosis, Inc... ORPHA:453499
Mitochondrial Myopathy, Infantile, Transient
Macroglossia, Failure to thrive, Increased muscle lipid content, Increased muscle glycogen conten... OMIM:500009
Distal Myopathy, Tateyama Type
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... ORPHA:488650
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... OMIM:608810
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Dystonia 1, Torsion, Autosomal Dominant
Hyperlordosis, Abnormal posturing, Multiple joint contractures, Kyphosis, Torticollis, Scoliosis,... OMIM:128100
Trisomy 18
Webbed neck, Chiari malformation, Spina bifida, Anencephaly, Microretrognathia, Hypertelorism, Ho... ORPHA:3380
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ... OMIM:619487
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Multiple joint contractures, Centrally nucleated ... ORPHA:486815
Wildervanck Syndrome
Meningocele, Webbed neck, Fused cervical vertebrae, Short neck, Low posterior hairline, Facial palsy ORPHA:3456
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... OMIM:254130
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Inability to walk, Impulsivity, Dysphagia, Dystonia ORPHA:500180
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Hypoplasia o... OMIM:136760
Neu-Laxova Syndrome 1
Broad neck, Ventriculomegaly, Cerebellar hypoplasia, Spina bifida, Short umbilical cord, Microgna... OMIM:256520
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Micrognathia, Syringomyelia, Hepatosplenomegaly, Phocomelia, Eosinophilia, Thromboc... OMIM:274000
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Facial palsy, Type 1 ... ORPHA:353327
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema, Hydrocephalus, Pleural effusion OMIM:617822
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:255160
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... OMIM:619374
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Aicardi Syndrome
Gray matter heterotopia, Dilated third ventricle, Chiari malformation, Lateral ventricle dilatati... OMIM:304050
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Webbed neck, Kyphosis, Short neck, Minicore myopathy, Scoliosis, Increased e... ORPHA:178148
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired collagen-related peptide-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:153670
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder OMIM:619927
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Pericardial effusion ORPHA:231111
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Cerebrocostomandibular Syndrome
Meningocele, Webbed neck, Myelomeningocele, Spina bifida, Micrognathia, Hydranencephaly ORPHA:1393
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Resting tremor, Tremor, Broad-based gait ORPHA:3077
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... ORPHA:1145
Myopathy, Centronuclear, 2
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, General... OMIM:255200
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... OMIM:310440
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Central Core Disease
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... ORPHA:597
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Dry skin, Scoliosis, Muscular dystrophy OMIM:617066
Retinitis Pigmentosa 27
Pallor OMIM:613750
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Generalized amyotr... OMIM:254090
Crouzon Syndrome
Chiari malformation, Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the maxilla, Hypertelori... ORPHA:207
Fibular Hemimelia
Short tibia, Short toe, Foot oligodactyly, Spina bifida, Short femur, Limb undergrowth, Thrombocy... ORPHA:93323
Ulnar Hemimelia
Aplasia of the 5th finger, Spinal dysraphism, Short forearm, Aplasia of metacarpal bones, Aplasia... ORPHA:93320
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Delayed puberty, Growth delay... ORPHA:77259
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Limited neck flexion, ... ORPHA:324604
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Short 4th metacarpal, Short ribs, Spina bifida, Hydrocephalus, Short dista... OMIM:109400
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Kyphosis, Vertebral segmentation defect, Spina bifida occul... ORPHA:2311
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Dental malocclusion, Telangiectasia, Natal tooth, Spina bifida, ... OMIM:234100
Scapuloperoneal Spinal Muscular Atrophy
Hyperlordosis, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrop... OMIM:181405
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Absent muscle fiber emerin, Kyphosis, Elbow flexion contracture, Achilles tendon c... ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Absent muscle fiber emerin, Kyphosis, Elbow flexion contracture, Achilles tendon c... ORPHA:98863
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Waardenburg Syndrome, Type 1
Spina bifida, Hypertelorism, Mandibular prognathia, Myelomeningocele OMIM:193500
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... OMIM:610099
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Aarskog-Scott Syndrome
Short foot, Small hand, Delayed eruption of teeth, Congestive heart failure, Hypoplasia of the ma... ORPHA:915
Branchiootic Syndrome
Micrognathia, Branchial fistula ORPHA:52429
Arnold-Chiari Malformation Type Ii
Meningocele, Cyanosis, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus,... ORPHA:1136
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Increased body weight ORPHA:276608
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk OMIM:618718
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Tetrasomy 5P
Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus, Redundant neck ski... ORPHA:3309
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Hypoplasia of the maxilla, Hypertelorism, Proptosis, Malar flatt... OMIM:109120
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Growth delay, Ascites, Generalized edema ORPHA:90362
Phakomatosis Pigmentokeratotica
Spina bifida, Raynaud phenomenon, Hemiatrophy, Arrhythmia ORPHA:2874
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Hypertension, Peripheral edema ORPHA:79126
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Hypertelorism, Malar... ORPHA:261295
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Abnormal muscle fiber morphology, Hydrocephalus, Camptodactyly of ... OMIM:175700
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites ORPHA:93552
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular ... OMIM:613157
Fanconi Anemia
Leukopenia, Anemia, Ventriculomegaly, Spina bifida, Aplasia/Hypoplasia of fingers, Micrognathia, ... ORPHA:84
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... ORPHA:2369
Jacobsen Syndrome
Short toe, Webbed neck, Ventriculomegaly, Spina bifida, Missing ribs, Hypertelorism, Short neck, ... ORPHA:2308
Hemoglobin D Disease
Pallor ORPHA:90039
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Short 5th finger, Ventriculomegaly, Spina bifida, Micrognathia, Aplasia/Hy... ORPHA:508498
Bor Syndrome
Branchial cyst, Retrognathia ORPHA:107
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Pallor ORPHA:324575
Branchiogenic Deafness Syndrome
Branchial cyst, Short distal phalanx of finger, Branchial fistula ORPHA:50815
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Absence of the sacrum, Mitral stenosis, Tethered cord, Aortic valve stenosis OMIM:617660
Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Absent muscle fiber emerin, Kyphosis, Elbow flexion contracture, Achilles tendon c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Absent muscle fiber emerin, Kyphosis, Elbow flexion contracture, Achilles tendon c... ORPHA:98853
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Malar flattening, Spinal dysraphism, Carpal bone hypoplasia OMIM:603546
Dravet Syndrome
Cyanotic episode, Limited neck range of motion, Pallor ORPHA:33069
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Failure to thrive, Intrauterine growth retardation, Abnormal hemidiaphragm m... ORPHA:2257
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Apnea, Central Sleep
Cyanosis OMIM:207720
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter, Scoliosis, Pallor OMIM:617675
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... OMIM:613530
Muscle-Eye-Brain Disease
Meningocele, Myopathy, Holoprosencephaly, Hydrocephalus ORPHA:588
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation OMIM:300835
Congenital Myasthenic Syndrome
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Kyphos... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Kyphos... ORPHA:98914
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hereditary Methemoglobinemia
Small for gestational age, Cyanosis ORPHA:621
Treacher-Collins Syndrome
Retrognathia, Encephalocele, Hypoplasia of the thymus, Micrognathia, Hypoplasia of the maxilla, H... ORPHA:861
Focal Dermal Hypoplasia
Short ribs, Spina bifida, Telangiectasia of the skin, Short clavicles, Umbilical hernia, Abnormal... ORPHA:2092
22Q11.2 Deletion Syndrome
Meningocele, Hypoplasia of the thymus, Spina bifida, Micrognathia, Arrhinencephaly, Hydrocephalus... ORPHA:567
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... OMIM:300559
Oligomeganephronia
Small for gestational age, Branchial cyst, Congenital diaphragmatic hernia ORPHA:2260
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Nail-Patella Syndrome
Spina bifida, Hypoplasia of first ribs, Patellar hypoplasia, Patellar aplasia OMIM:161200
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor ORPHA:276556
Cap Myopathy
Increased variability in muscle fiber diameter, Generalized amyotrophy, Lower limb muscle weaknes... ORPHA:171881
Pagod Syndrome
Meningocele, Sudden cardiac death, Encephalocele, Abnormality of neuronal migration, Spina bifida... ORPHA:991
Aymé-Gripp Syndrome
Patent ductus arteriosus, Short stature, Pericardial effusion, Hydrocephalus, Pericarditis, Postn... ORPHA:1272
Campomelic Dysplasia
11 pairs of ribs, Spinal dysraphism, Patellar hypoplasia, Short 1st metacarpal, Spina bifida, Mic... OMIM:114290
Histidinemia
Hyperactivity ORPHA:2157
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor ORPHA:276575
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Vertebral segmentation defect, Macroglossia, Type 1 muscle fiber atrophy, Scol... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Vertebral segmentation defect, Macroglossia, Type 1 muscle fiber atrophy, Scol... ORPHA:352665
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Deeply set eye, Webbed neck, Micrognathia, Hydrocephalus, Hypertelorism, L... ORPHA:261337
Rare Circulatory System Disease
Thoracic kyphosis, Cyanosis, Elbow flexion contracture, Pallor ORPHA:98028
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor ORPHA:276580
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Palpitations, Short palm, Prolonged QTc interval, Hypertelorism, Malar flattening, ... OMIM:170390
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Deeply set eye, Branchial anomaly, Ventriculomegaly, Hypertelorism, Short palm ORPHA:466950
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
Cln5 Disease
Hyperactivity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Dysmetria, Tremor, ... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Choreoathetosis, Inability to walk OMIM:620023
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... OMIM:619790
Non-Functioning Paraganglioma
Pallor, Weight loss, Flushing ORPHA:94080
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis, Weight loss ORPHA:3165
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, Failure to thrive, Myo... OMIM:248800
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... ORPHA:77261
Q Fever
Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Abnormal left ventricular fun... ORPHA:781
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Cardiomyopathy OMIM:212065
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Hyperactivity, Abnormal eating behavior ORPHA:101039
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Small hand, Micrognathi... ORPHA:37553
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Fanconi Anemia, Complementation Group I
Decreased body weight, Fused cervical vertebrae, Pallor, Short neck, Intrauterine growth retardation OMIM:609053
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypertension, Proptosis OMIM:166300
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Pleural effusion, Epistaxis, Subconjunctival hemorrhage ORPHA:464329
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Pfeiffer Syndrome
Short middle phalanx of toe, Mandibular prognathia, Chiari malformation, Hydrocephalus, Hypoplasi... OMIM:101600
Hereditary Folate Malabsorption
Failure to thrive, Skeletal muscle atrophy, Pallor ORPHA:90045
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Chiari malformation, Ventriculomegaly, De... ORPHA:87
Fucosidosis
Anterior beaking of lumbar vertebrae, Decreased muscle mass, Kyphosis, Acrocyanosis, Failure to t... ORPHA:349
Rheumatic Fever
Aplasia/Hypoplasia of the abdominal wall musculature, Erythema, Pallor ORPHA:3099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:618992
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hydrocephalus, Hypoplasia of the maxilla, Hypertelorism, Umbilical hernia OMIM:601499
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hydrocephalus, Hypopla... ORPHA:2409
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Proptosis OMIM:259610
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Osteopetrosis, Autosomal Recessive 2
Anemia, Mandibular prognathia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Mandibular osteom... OMIM:259710
Leishmaniasis
Skin ulcer, Weight loss, Pallor ORPHA:507
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Abnormal posturing OMIM:614857
Neurofibromatosis, Type I
Aqueductal stenosis, Spina bifida, Hydrocephalus, Hypertension, Hypertelorism OMIM:162200
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia OMIM:618183
Evans Syndrome
Bruising susceptibility, Jaundice, Petechiae, Pallor ORPHA:1959
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Proptosis ORPHA:2776
Rubinstein-Taybi Syndrome 1
Retrognathia, Enamel hypoplasia, Dental malocclusion, Talon cusp, Deeply set eye, Spina bifida, M... OMIM:180849
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Edema, Hemateme... OMIM:615846
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Rhizomelia, Pericardial effusion, Abnormal left ventr... ORPHA:79328
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Pallor OMIM:615631
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Agitation, Truncal titubation, Dysmetria, Tremor OMIM:618056
Buerger Disease
Skin ulcer, Acrocyanosis ORPHA:36258
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Weight loss, Pallor ORPHA:3226
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Distal 22Q11.2 Microdeletion Syndrome
Deeply set eye, Aortic regurgitation, Short distal phalanx of finger, Malar flattening, Short pal... ORPHA:261330
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism, Webbed neck, Splenomegaly OMIM:612918
Primary Myelofibrosis
Petechiae, Cachexia, Purpura, Pallor, Ecchymosis ORPHA:824
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Pycnodysostosis
Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, Chiari malformation, Delayed er... ORPHA:763
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Left ventricular hypertrophy, Bruising susceptibility, Right v... ORPHA:335
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Icf Syndrome
Anemia, Micrognathia, Communicating hydrocephalus, Lymphopenia, Abnormality of neutrophils, Hyper... ORPHA:2268
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Short ribs, Spina bifida, Micrognathia, Hydrocephalus, Hypertelorism, Short nec... OMIM:304120
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Failure to thrive, Scoliosis, Rimmed vacuoles, Skelet... OMIM:619518
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Birth length less than 3rd percentile, Short... OMIM:139210
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
Shprintzen-Goldberg Syndrome
Retrognathia, Chiari malformation, Ventriculomegaly, Micrognathia, Communicating hydrocephalus, M... ORPHA:2462
Pde4D Haploinsufficiency Syndrome
Hypotension, Short toe, Short metatarsal, Mandibular prognathia, Upper limb undergrowth, Short me... ORPHA:439822
Cartilage-Hair Hypoplasia
Anemia, Spinal dysraphism, Rhizomelia, Small hand, Neutropenia, Heart block, Short neck, Mesomeli... ORPHA:175
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Encephalopathy, Ethylmalonic
Failure to thrive, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Right ventricular hypertrophy ORPHA:860
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... OMIM:615422
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing, Hypomimic face ORPHA:225147
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Absent foot ORPHA:93929
Frontorhiny
Encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Basal encephalocele, Hypopl... ORPHA:391474
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles OMIM:609452
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss ORPHA:216866
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Micrognathia, Polysplenia, Spina bifida o... OMIM:201000
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Subcortical band heterotopia, Pachygyria OMIM:618737
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hypertelorism, Proptosis, Short metatarsal ORPHA:1540
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Dominant Beta-Thalassemia
Jaundice, Skin ulcer, Hypoplasia of the musculature, Pallor, Failure to thrive in infancy ORPHA:231226
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Sepsis In Premature Infants
Cyanosis, Decreased body weight, Petechiae, Small for gestational age, Jaundice, Purpura, Pallor ORPHA:90051
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Pallor OMIM:611590
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Ventriculomegaly, Spina bifida, Hydrocephalus, Chiari type I malformation, Intrav... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Ventriculomegaly, Spina bifida, Hydrocephalus, Chiari type I malformation, Intrav... ORPHA:363958
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pallor OMIM:613839
Triploidy
Meningocele, Hydrocephalus, Macroglossia, Holoprosencephaly, Short neck, Intrauterine growth reta... ORPHA:3376
Lateral Meningocele Syndrome
Meningocele, Biconcave vertebral bodies, Vertebral fusion, Decreased muscle mass, Kyphosis, Hydro... OMIM:130720
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger ORPHA:1759
Crouzon Syndrome
Mandibular prognathia, Hydrocephalus, Hypoplasia of the maxilla, Hypertelorism, Proptosis, Shallo... OMIM:123500
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Absence of the sacrum, Hydromyelia, Hydrocephalus, Tethered cord, ... OMIM:600145
Tricuspid Atresia
Cyanosis ORPHA:1209
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Cachexia, Skeletal muscle atroph... ORPHA:300605
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Short palm, Deeply set eye ORPHA:85279
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Hypertelorism ORPHA:1529
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites ORPHA:538
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short middle phalanx of the 2nd finger, Short 5th metacarpal, Short middle phalanx of the 5th fin... OMIM:156510
Keipert Syndrome
Hypoplasia of the maxilla, Hypertelorism, Short hallux, Aplasia/Hypoplasia of the distal phalange... ORPHA:2662
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Deeply set eye, Short femoral neck OMIM:608154
Split Cord Malformation
Meningocele, Myelomeningocele, Chiari malformation, Hydromyelia, Hydrocephalus, Spinal cord tumor... ORPHA:573278
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Acrodysostosis
Short toe, Mandibular prognathia, Short metacarpal, Delayed eruption of teeth, Hypoplasia of the ... ORPHA:950
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Hypertelorism, Ventriculomegaly OMIM:218000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Death in childhood, Pallor OMIM:246450
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Cohen Syndrome
Leukopenia, Macrodontia of permanent maxillary central incisor, Short metacarpal, Cerebellar hypo... OMIM:216550
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Short distal phalanx of finger, Mandibular prognathia, Aplasia/Hypopla... ORPHA:1248
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Impulsivity, Dysmetria, Dysphagia, Dystonia, Inte... OMIM:610217
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Short tibia, Pulmonary arterial hypertension, Spinal dysraphism, Deeply set eye, Up... ORPHA:96334
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Beta-Thalassemia Major
Jaundice, Skin ulcer, Hypoplasia of the musculature, Pallor, Failure to thrive in infancy ORPHA:231214
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... OMIM:123320
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Cryptogenic Organizing Pneumonia