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Gene: Derl2 MGI:2151483

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Gene Summary

Name:
Der1-like domain family, member 2
Synonyms:
F-lana,  CGI-101,  Derlin-2,  Flana

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Derl2tm1b(EUCOMM)Hmgu 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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Derl2 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 Derl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Weight lo... ORPHA:141152
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia, Flexion contracture, Limitation of joint mobility, Respiratory insuff... ORPHA:157973
Idiopathic Bronchiectasis
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Clubbing, Bronchiectasis, Abnormal respi... ORPHA:60033
Pulmonary Blastoma
Weight loss, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Camptodact... OMIM:619751
Christianson Syndrome
Death in early adulthood, Cachexia, Pectus excavatum, Abnormal thorax morphology, Joint hyperflex... ORPHA:85278
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight ORPHA:314811
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... ORPHA:50251
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... ORPHA:411593
Renpenning Syndrome
Diabetes mellitus, Cachexia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnorm... ORPHA:3242
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr... OMIM:614399
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Clinodactyly... ORPHA:3268
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Idiopathic Achalasia
Wheezing, Dysphagia, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... ORPHA:324575
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Cachexia, Joint stiffness ORPHA:1144
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Respiratory insufficiency,... OMIM:615633
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Respiratory insufficiency, Hypogonadism, Dysphagia ORPHA:97229
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Perching Syndrome
Respiratory distress, Joint contracture, Dysphagia, Camptodactyly OMIM:617055
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal rib morphology, Respiratory insufficiency ORPHA:93941
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or ... ORPHA:66637
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, Polydactyly, Obesity OMIM:615993
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, H... OMIM:307500
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Tuberculosis
Weight loss, Cough ORPHA:3389
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, 2-3 toe syndactyly, Respiratory insufficie... OMIM:618186
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Aggressive behavior, Obesity, Male hypogonadism OMIM:300148
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... OMIM:609052
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Ketotic hypoglycemia ORPHA:26792
Mulibrey Nanism
Cachexia ORPHA:2576
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Mcdonough Syndrome
Pectus excavatum, Cryptorchidism, Cachexia ORPHA:2471
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Pectus excavatum, Abnormal thorax morphology, Flexion contracture, Wei... ORPHA:1979
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Small for gestational age, Polydactyly, Decreased body weight, Clinodactyly of the ... ORPHA:231140
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Toe syndactyly, Hypoglycemia, Cryptorchidism, Cone-shaped epiphyses of the distal pha... OMIM:618958
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Fasting hypoglycemia ORPHA:171706
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Respiratory insufficiency, Hypoglycemia ORPHA:6
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Hypoglycemia, Cachexia, Exertional dyspnea ORPHA:42
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... ORPHA:276580
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Respira... OMIM:245400
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Failure to thrive OMIM:300934
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Aggre... ORPHA:85293
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Thoracic hypoplasia, Dumbbell-shaped long bone, Hypoplastic ... OMIM:151210
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... ORPHA:2774
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Short metacarpal, Brachydactyly, Metaphyseal widening, Os... OMIM:184260
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... OMIM:602271
Temple Syndrome
Small for gestational age, Cryptorchidism, Small hand, Obesity, Short foot, Recurrent hypoglycemi... ORPHA:254516
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Fasting hypoglycemia, ... ORPHA:276608
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Apnea, Hypoglycemia OMIM:619048
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, L... OMIM:617895
Axial Spondylometaphyseal Dysplasia
Osteopenia, Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed ri... ORPHA:168549
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... ORPHA:166272
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger OMIM:616801
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Clinodactyly of the 5th finger, Small for gestational age, Hypoglycemia ORPHA:231147
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Lethal Recessive Chondrodysplasia
Respiratory distress, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow met... ORPHA:1423
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... ORPHA:276575
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Abnormal rib morphology, Joint hyper... ORPHA:2759
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormal rib morphology, Decreased fertility, Obesity, Hypogonadism, Type II d... ORPHA:2234
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Weight l... ORPHA:77297
Ring Chromosome 10 Syndrome
Pectus excavatum, Sandal gap, Cachexia, Tapered finger ORPHA:1438
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
Rett Syndrome
Intermittent hyperventilation, Apnea, Cachexia, Short foot, Bruxism, Stereotypical hand wringing OMIM:312750
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Aggressive behavior OMIM:237310
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive OMIM:616974
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormal thumb morphology, Abnormal femur morphology, Respiratory insuffic... ORPHA:1842
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest ORPHA:1354
Schwartz-Jampel Syndrome
Apnea, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Increased bone m... ORPHA:800
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Cachexia, Small hand, Elbow flexion contracture, Knee flexion co... ORPHA:371364
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Endocardial Fibroelastosis
Cryptorchidism, Sandal gap, Hypoglycemia ORPHA:2022
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Abnormal rib morphology, Narrow chest, Failure to thrive ORPHA:1703
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... ORPHA:79127
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Kniest Dysplasia
Respiratory distress, Hip contracture, Dumbbell-shaped long bone, Pectus excavatum, Abnormal cart... OMIM:156550
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia ORPHA:298
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Silver-Russell Syndrome
Sandal gap, Failure to thrive in infancy, Cachexia, Cryptorchidism, Insulin resistance, Obesity, ... ORPHA:813
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Small for gestational age, Anterior rib cupp... OMIM:260400
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal... ORPHA:73272
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... OMIM:166210
Flynn-Aird Syndrome
Type II diabetes mellitus, Cachexia, Joint stiffness ORPHA:2047
Pyridoxine-Dependent Epilepsy
Restlessness, Neonatal respiratory distress, Hypoglycemia, Neonatal asphyxia ORPHA:3006
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Cough ORPHA:142
Whipple Disease
Cachexia, Anorexia, Insulin resistance, Respiratory insufficiency, Arthritis, Erectile dysfunctio... ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Hypoglycemia, Anorexia OMIM:619386
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... ORPHA:1143
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Hypoglycemia, Bronchiectasis, Respiratory insufficiency, Aspira... OMIM:618253
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Thin... OMIM:300219
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Episodic tachypnea, Hypoglycemia OMIM:615160
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short... ORPHA:93351
Aredyld Syndrome
Cachexia, Abnormal pelvic girdle bone morphology, Type II diabetes mellitus, Type I diabetes mell... ORPHA:1133
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Small for gestational age, Dysmenorrhea, Hypoglycemia, Cryptorchidism, Asthma, Short ... ORPHA:397590
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Camptodac... ORPHA:628
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Cachexia ORPHA:1389
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:2790
Galactokinase Deficiency
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog... ORPHA:79237
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Osteogenesis Imperfecta, Type X
Respiratory distress, Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic sco... OMIM:613848
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Tapered finger ORPHA:2930
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Sandal gap, Small for gestational age, Hypoglyc... OMIM:607143
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Respiratory insufficiency, Joint stiffness ORPHA:702
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... OMIM:617102
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Hypoglycemia, Decreased fertility in females, ... ORPHA:79239
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Hypoglycemia,... ORPHA:391408
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Split hand, Dysph... OMIM:157900
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Failure to thrive, Death in childhood OMIM:615597
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneu... ORPHA:36238
Meier-Gorlin Syndrome 1
Respiratory distress, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pectus cari... OMIM:224690
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Tapered finger, Flexion contracture, Hyperextensibility at wr... ORPHA:544503
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia OMIM:617872
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... ORPHA:2635
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture, Type I diabetes mellitus ORPHA:2596
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Iliac crest ser... ORPHA:239
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cachexia, Cryptorchidism, Toe clin... ORPHA:217346
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hsd10 Mitochondrial Disease
Restlessness, Agitation, Hypoglycemia, Aggressive behavior OMIM:300438
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Clinodactyly of the 5th finger, Prominent fingertip pads, Small for gestational age, Hypoglycemia ORPHA:231137
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Pulmon... ORPHA:2519
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexi... ORPHA:2097
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Failure to thrive, Osteoporosis, Hypoglycemia ORPHA:369
Achondroplasia
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Short femur, Thoracic hypop... OMIM:100800
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Death in a... OMIM:122860
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive OMIM:620357
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Tetrasomy 12P
Joint hyperflexibility, Cachexia ORPHA:884
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Cryptorchidism, Abnormal rib morphology, Rib fusion, Coxa vara, A... ORPHA:1988
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Abnormal rib... ORPHA:93267
Pancreatic And Cerebellar Agenesis
Death in infancy, Diabetes mellitus, Apnea, Hypoglycemia, Joint stiffness, Flexion contracture, P... OMIM:609069
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused ... OMIM:612852
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Short palm, Ankle flexion contracture, Small hand, Upper limb undergrowth, ... OMIM:608799
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Respiratory insufficiency OMIM:618241
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Abnormal cartilage matrix, Respiratory insufficiency OMIM:245650
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture OMIM:615042
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Succinic Acidemia
Respiratory distress OMIM:600335
Diaphanospondylodysostosis
Respiratory distress, Delayed vertebral ossification, Absent in utero ossification of vertebral b... OMIM:608022
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age OMIM:616733
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hypoglycemia, Attention deficit hyperactivity disorder OMIM:620211
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
X-Linked Creatine Transporter Deficiency
Joint hyperflexibility, Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypoglycemia OMIM:610006
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Weight loss, Restric... ORPHA:98897
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... ORPHA:133
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Death in childhood OMIM:246900
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... ORPHA:93284
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Chitayat Syndrome
Hallux valgus, Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly OMIM:617180
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Tachypnea, Weight loss, Agitation, Cough, Oral aversion, Hyperglycemia ORPHA:134
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... OMIM:250420
Propionic Acidemia
Apnea, Hypoglycemia, Tachypnea, Osteoporosis, Failure to thrive OMIM:606054
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia, Weight loss ORPHA:79242
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u... ORPHA:399
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Clubbing of fingers, Clubbing, Anorexia OMIM:175500
Lethal Congenital Contracture Syndrome 5
Death in infancy, Small for gestational age, Flexion contracture, Respiratory insufficiency, Thin... OMIM:615368
Laron Syndrome
Hypoglycemia, Short toe, Osteoarthritis, Truncal obesity, Brachydactyly ORPHA:633
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Choanal Atresia
Respiratory distress, Craniosynostosis, Upper airway obstruction, Polydactyly, Choking episodes, ... ORPHA:137914
Carnitine Deficiency, Systemic Primary
Respiratory distress, Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive OMIM:212140
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility ORPHA:2058
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anorexia, Cachexia, Pectus excavatum, Asymmetry of the thorax, Genu varum ORPHA:1969
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Pectus excavatum, Metaphyseal widen... OMIM:608728
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Anorexia ORPHA:79312
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Failure to thrive ORPHA:370924
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Clubbing of toes, Dysphagia ORPHA:2198
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, A... ORPHA:348
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... OMIM:187600
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Failure to thrive, Respiratory distress, Adducted thumb ORPHA:50810
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Failure to thrive, Agitation, Neonatal hypoglycemia OMIM:619046
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Cachexia, Weight loss ORPHA:83469
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Oromandibular Dystonia
Respiratory distress, Weight loss, Dysphagia, Bruxism ORPHA:93958
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Slender build, Attention deficit hyperactivity disorder, Recurrent... OMIM:617600
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchi... OMIM:612444
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib... ORPHA:1163
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Malaria
Respiratory distress ORPHA:673
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Recurrent hy... OMIM:616817
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... ORPHA:2484
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp... ORPHA:1488
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia ORPHA:300605
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidism, Thorac... OMIM:616638
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation, Fastin... ORPHA:263455
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As... ORPHA:70588
Nipah Virus Disease
Respiratory distress, Anorexia, Cough ORPHA:99825
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Osteoporosis of vertebrae, ... ORPHA:95619
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Dumbbell-shaped long bo... OMIM:228520
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Agitation, Abnormal repetitive mannerisms ORPHA:927
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Delayed epiphyseal ossif... OMIM:114290
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Aggressive behavior, Cryptorchidism, Attention deficit h... OMIM:619075
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... OMIM:259440
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Ciliary Dyskinesia, Primary, 50
Male infertility, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Chronic si... OMIM:620356
Erythrokeratodermia Variabilis
Diabetes mellitus, Tapered finger, Weight loss, Abnormal testis morphology, Brachydactyly ORPHA:317
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Dysphagia, Adducted thumb ORPHA:89844
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Cryptorchidis... ORPHA:3082
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Abnormal c... ORPHA:2347
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Anorexia, ... ORPHA:1328
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Failure to thrive, Polyphagia, Hypergonadotropic hypogonadism OMIM:606407
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Dec... OMIM:616897
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c... ORPHA:2772
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Bowing of the ... OMIM:200600
Trisomy 18
Camptodactyly of finger, Cachexia, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morph... ORPHA:3380
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Respiratory insufficiency... ORPHA:2021
Achondrogenesis Type 1B
Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Spondylocostal Dysostosis 2, Autosomal Recessive
Restrictive ventilatory defect, Rib fusion OMIM:608681
Huntington Disease-Like 2
Weight loss ORPHA:98934
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Immunodeficiency 27A
Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Anorexia, Weight loss, S... OMIM:209950
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Neonatal hypoglycemia, Large for gestational age, Cryptorchidism, Asthma, Thoracic... ORPHA:457485
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, R... OMIM:613807
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Apnea, Hypoglycemia OMIM:210200
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Infertility, Ciliary dyskinesia OMIM:606763
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... OMIM:618188
Classic Hodgkin Lymphoma
Anorexia, Osteolysis, Respiratory insufficiency, Weight loss, Cough ORPHA:391
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Failure to thrive... OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Hypoglycemia, Death in adolescence, Death in childho... OMIM:619055
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Impulsivity, Dysphagia ORPHA:280195
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Flexion contracture OMIM:618201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Delayed epiphyseal ossification, Abnormal epiphy... ORPHA:226313
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia ORPHA:2394
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Hypoglycemia OMIM:251000
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Type I diabetes mellitus, Dysphagia OMIM:620166
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, D... OMIM:617091
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Cachexia, Pectus excavatum, Joint hyperflexibility, Broad thumb ORPHA:109
Silver-Russell Syndrome 1
Syndactyly, Small for gestational age, Short distal phalanx of the 5th finger, Fasting hypoglycem... OMIM:180860
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Inappropriate b... OMIM:168605
D-Glyceric Aciduria
Failure to thrive, Neonatal respiratory distress, Tongue thrusting, Hypoglycemia OMIM:220120
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... ORPHA:2902
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Large for gestational age, Respiratory insufficiency due to muscle weakness, Neonata... ORPHA:169189
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Large for gestational age, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal... ORPHA:79644
Wolman Disease
Cachexia ORPHA:75233
Malonyl-Coa Decarboxylase Deficiency
Neonatal respiratory distress, Hypoglycemia OMIM:248360
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, F... OMIM:608940
Cleidocranial Dysplasia 1
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... OMIM:119600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Nonketotic hypoglycemia, Tapered toe, ... OMIM:608836
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Myotonic Dystrophy 1
Respiratory distress, Hypogonadism, Dysphagia, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... OMIM:173800
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Failure to thrive, Hypoglycemia OMIM:617049
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal m... ORPHA:296
Seckel Syndrome
Sandal gap, Cachexia, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflexibility, Hip dyspla... ORPHA:808
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Dysphagia ORPHA:98805
Greenberg Dysplasia
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... OMIM:215140
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia, Cryptorchidism, Primary amenorrhea, Failure to thrive ORPHA:95496
Osteoglophonic Dysplasia
Respiratory distress, Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoar... OMIM:166250
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Irregular menstruation, Tibial bowing, Femoral bowing, Respi... OMIM:616482
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Respiratory fai... ORPHA:3015
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... ORPHA:1120
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormality of body weight, Osteoarthritis, Fasting hyperinsulinemia, Insulin resistan... ORPHA:2298
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Horizon... ORPHA:2616
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... OMIM:223800
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Pneumonia, Cachexia, Interstit... ORPHA:37042
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Hypoglycemia, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect... ORPHA:26791
Hypoadrenocorticism, Familial
Apnea, Hypoglycemia OMIM:240200
Achondrogenesis Type 1A
Multiple rib fractures, Recurrent fractures, Abnormal enchondral ossification, Short thorax, Shor... ORPHA:93299
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... ORPHA:2475
Xfe Progeroid Syndrome
Failure to thrive, Premature ovarian insufficiency, Cachexia, Death in adolescence OMIM:610965
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Apnea, Fasting hypoglycemia, Hypoglycemia OMIM:261680
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hypoglycemia, Hyperventilation OMIM:229700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Respiratory distress, Limited elbow movement, Hip dislocation, Flattened epi... OMIM:183900
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... ORPHA:321
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Hypoxemia ORPHA:2140
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... ORPHA:90060
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulde... OMIM:620369
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Small for gestat... OMIM:616229
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Obesity, Sprengel anomaly, Brachydactyly ORPHA:2180
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Attention deficit h... OMIM:619383
Isolated Klippel-Feil Syndrome
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... ORPHA:2345
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Hip dislocation, Fasting hypoglycemia, Genu valgum ORPHA:436174
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Increased susceptibility to fractures, Aspiration pneumonia, Cough, Atten... ORPHA:216866
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Dysphagia, Neonatal death, Arthrogryposis multiplex congenita, Decre... OMIM:608013
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... OMIM:614874
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... OMIM:609813
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Cachexia, Weight loss, Dysphagia, Slender build OMIM:603041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delaye... OMIM:618395
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Glycosuria, Respiratory f... OMIM:220110
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs ORPHA:1797
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Thin ribs, Triangular shaped distal phalanges o... ORPHA:73230
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Cry... OMIM:217980
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, Decreased body ... OMIM:618265
Tetrasomy 5P
Respiratory distress, Overlapping toe, Short hallux, Pectus excavatum, Long fingers, Clinodactyly... ORPHA:3309
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Tachy... ORPHA:26793
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Spontaneous pneumothorax, ... ORPHA:558
Lymphoid Interstitial Pneumonia
Crackles, Dyspnea, Wheezing, Clubbing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventil... ORPHA:79128
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Restrictive Dermopathy 2
Respiratory distress, Overtubulated long bones, Short clavicles OMIM:619793
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Hypoglycemia, Joint hypermobility, Tapered finger, Delaye... OMIM:616007
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... ORPHA:171430
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia, Elbow contracture, Hypoventilation OMIM:620275
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Hypoglycemia, Radial club hand, Cryptorchidis... OMIM:617053
Cleidocranial Dysplasia
Hypoplastic scapulae, Sinusitis, Down-sloping shoulders, Recurrent fractures, Tapered finger, Abn... ORPHA:1452
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Dysphagia, Respiratory failure, Chylo... OMIM:620278
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Tapered finger, Aggressive behavior, Limited elbow extension, Hip dislocation, Obes... OMIM:301066
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Short... ORPHA:2311
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Dyspnea, Cryp... ORPHA:2554
Takayasu Arteritis
Anorexia, Weight loss, Arthritis, Pulmonary arterial hypertension, Abnormal pattern of respiration ORPHA:3287
Solitary Fibrous Tumor
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia ORPHA:2126
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Abnormal rib morphology ORPHA:2578
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Congenital Myasthenic Syndrome
Joint laxity, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respira... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respira... ORPHA:98914
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... ORPHA:2522
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Abnormal rib morphology, Slender long bone, Ab... ORPHA:1486
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Cryptorchidism, Joint hypermobility, Respiratory insufficiency, Thin ribs ORPHA:456328
Propionic Acidemia
Hypoglycemia ORPHA:35
Histidinuria-Renal Tubular Defect Syndrome
Short middle phalanx of finger, Rounded middle phalanx of finger, Hypoglycemia ORPHA:2158
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesity, Primary amenorrhea, Hypoinsulinemia OMIM:600955
Infant Acute Respiratory Distress Syndrome
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure ORPHA:70587
Silver-Russell Syndrome 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Neonatal hypoglycemia OMIM:618905
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Coiled sperm flage... OMIM:620197
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... ORPHA:98915
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Abnormal thorax morphology, Hypoglycemia OMIM:201910
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Hypoglycemia, Neonatal asphyxia, Respiratory insufficiency, Overlapping fingers... OMIM:608779
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Metaphyseal widening, Flexion contracture, Coxa vara, Flattened epiphysis, ... OMIM:300232
Adnp Syndrome
Respiratory distress, Joint laxity, Broad hallux, Sandal gap, Oral-pharyngeal dysphagia, Abnormal... ORPHA:404448
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture OMIM:618120
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... OMIM:208500
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hypoglycemia, Respiratory distress, Glycosuria OMIM:231680
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Timothy Syndrome
Pulmonary arterial hypertension, Hypoglycemia, Pneumonia, Cutaneous syndactyly OMIM:601005
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Abnormal bone ossifi... ORPHA:175
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Hypoglycemia, Aggressive behavior OMIM:617710
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Osteopenia, Multiple joint contractures, Metaphyseal widening, Pectus carin... ORPHA:536467
Three M Syndrome 2
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum, Slender l... OMIM:612921
Isaacs Syndrome
Weight loss ORPHA:84142
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... OMIM:617248
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Pectus excavatum, Metaphyseal widening, Recurrent pneumonia, Clubbing, Flex... OMIM:617303
Tenorio Syndrome
Osteopenia, Joint laxity, Apnea, Hypoglycemia, Recurrent pneumonia, Hypoinsulinemia OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Esophageal Atresia
Respiratory distress, Small for gestational age, Failure to thrive in infancy, Maternal diabetes,... ORPHA:1199
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:614736
Thymic Carcinoma
Dyspnea, Weight loss, Cough ORPHA:99868
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Respiratory insufficiency, Respiratory failure, Failure to thrive, Hyp... OMIM:609015
Craniofaciofrontodigital Syndrome
Respiratory distress, Osteopenia, Joint laxity, Large for gestational age, Dyspnea, Osteoporosis,... ORPHA:363705
Osteosarcoma
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... ORPHA:668
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm ORPHA:3217
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fas... ORPHA:2088
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizu... ORPHA:361
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Abnormal eating behavior, Ast... ORPHA:209905
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, ... OMIM:602361
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Tetanus
Respiratory distress, Tachypnea, Stiff neck, Dysphagia ORPHA:3299
Stuve-Wiedemann Syndrome 1
Apnea, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx of fin... OMIM:601559
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Failure to thrive, Contractures of the large joints ORPHA:329178
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Reduced forced vital capacity,... OMIM:613686
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Small for gestational age, Cryptorchidism, Insulin resistance, Aspiration, Fasting hy... ORPHA:96182
Late-Onset Isolated Acth Deficiency
Failure to thrive, Premature ovarian insufficiency, Hypoglycemia, Anorexia, Weight loss, Type I d... ORPHA:199299
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Block vertebrae, Rib fusion, Vertebral fusion OMIM:277300
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Limitation of joint mobility, Abnormal rib morphology, Pectus cari... ORPHA:3068
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Autoimmune Pulmonary Alveolar Proteinosis
Crackles, Dyspnea, Clubbing, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre... ORPHA:747
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Dysmenorrhea, Osteoporosis, Increased body weight, Irregular menstruation, Oligomen... ORPHA:264580
Xylt1-Cdg
Joint laxity, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck... ORPHA:370930
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Mucopolysaccharidosis, Type Iva
Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Recurren... OMIM:253000
Farber Disease
Respiratory distress, Short toe, Flexion contracture, Osteoporosis, Respiratory insufficiency, Ar... ORPHA:333
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss ORPHA:100024
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Anorexia, Tachypnea, Abnormal temper tantrums, Compulsive behavi... ORPHA:3008
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Male infertility, Bronchiectasis, Chronic rhinitis OMIM:618801
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss ORPHA:26790
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Joint stiffness, Genu valgum, Broad ribs, Abnormal metaphysis mo... ORPHA:583
Huntington Disease-Like 1
Abnormal shoulder morphology, Restlessness, Weight loss ORPHA:157941
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Failure to thrive, Aspiration, Hypoketotic hypoglycemia OMIM:610768
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Flexion contracture, Respiratory insufficiency ORPHA:367
Sotos Syndrome
Joint laxity, Aggressive behavior, Cryptorchidism, Long metacarpals, Increased body weight, Genu ... OMIM:117550
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy, Tachypnea, Respiratory arrest OMIM:201475
Microsporidiosis
Sinusitis, Osteomyelitis, Pneumonia, Cachexia, Anorexia, Weight loss, Rhinitis, Prostatitis ORPHA:2552
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Retrograde ejaculation, Rhinitis ORPHA:230
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Flexion contracture, Thin ribs OMIM:614833
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Failure to thrive, Hypoglycemia, Respiratory insufficiency OMIM:618329
Follicular Lymphoma
Pleural effusion, Weight loss ORPHA:545
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,... ORPHA:3258
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Squared iliac bones, Preaxial polyd... OMIM:616300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Hypoglycemia, Aggressive behavior, Flexi... ORPHA:17
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Flared metaphysis, ... OMIM:224300
Basilicata-Akhtar Syndrome
Short palm, Short foot, Camptodactyly, Neonatal hypoglycemia, Adducted thumb OMIM:301032
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Sprengel anomaly, Abnormal rib morphology OMIM:601076
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad hallux, Hypoglycemia, Tapered finger, Pectus excavatum, Short thumb, Cryptorchidism, Hip dy... OMIM:620224
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Pontine Tegmental Cap Dysplasia
Aspiration, Failure to thrive, Rib fusion, Dysphagia OMIM:614688
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ri... ORPHA:163966
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Becker Nevus Syndrome
Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerary ribs ORPHA:64755
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Postprandial hyp... OMIM:246200
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm ORPHA:97287
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:2215
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia OMIM:618839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Flar... OMIM:271640
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Hypoketotic hypoglycemia OMIM:600649
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal sclerosis, Respira... ORPHA:2905
Immunodeficiency, Common Variable, 10
Asthma, Recurrent pneumonia, Hypoglycemia, Recurrent sinusitis OMIM:615577
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Overlapping toe, Hypogonadotropic hypogonadism, Small hand, Obesity, Head-b... ORPHA:177907
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcification of the... OMIM:271665
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... OMIM:244460
Isolated Atp Synthase Deficiency
Respiratory distress, Hypogonadism ORPHA:254913
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria OMIM:616026
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Cachexia, Pectus excavatum, Azoospermia, Abnorma... ORPHA:2072
Wilson Disease
Aggressive behavior, Abnormality of the menstrual cycle, Hypersexuality, Increased body weight, W... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Cryptorchidism, Squared iliac bones... OMIM:611209
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Cardiorespiratory arrest OMIM:212138
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs OMIM:615220
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hypoglycemia OMIM:616355
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age ORPHA:254534
Huntington Disease-Like 2
Weight loss OMIM:606438
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Neonatal epiphyseal stippling, Hip dislocation, Anterior rib punct... ORPHA:35173
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Pectus carinatum, Reduced bone mineral density, Abnormal sternum... ORPHA:2911
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Hypoglycemia, Pectus excavatum, Tachypnea, R... OMIM:613658
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia ORPHA:314655
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Apnea, Anorexia, Tachypnea, Weight loss, Recurrent hypoglycemia ORPHA:20
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Acute Promyelocytic Leukemia
Metrorrhagia, Epistaxis, Anorexia, Productive cough, Weight loss, Addictive alcohol use, Exertion... ORPHA:520
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Hypoglycemia, Aggressive behavior, Abnormal temper tantrums, Contract... ORPHA:457279
Juvenile Polyposis Of Infancy
Cachexia, Clubbing of fingers, Midclavicular hypoplasia, Broad thumb, Broad phalanx of the toes ORPHA:79076
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Type II diabetes mellitus... ORPHA:453533
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Leigh Syndrome
Multiple joint contractures, Hypoglycemia, Respiratory failure, Dysphagia, Failure to thrive, Abn... ORPHA:506
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Mucopolysaccharidosis, Type Ivb
Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Joint stiffness, Metaphyseal w... OMIM:253010
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Ketotic hypoglycemia, Irregular menstruation, Osteoporosis, Increased body weight, ... ORPHA:79240
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Hip dislocation, Joint contracture, Failure to thrive OMIM:618005
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Equinus calcaneus, Respiratory insufficiency, Respiratory failure, ... ORPHA:746
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglotti... OMIM:617088
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Joint stiffness, Aggressive behavior, Dense calvaria OMIM:252920
Mgat2-Cdg
Respiratory distress, Osteopenia, Pectus excavatum, Failure to thrive, Stereotypical hand wringin... ORPHA:79329
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Genu valgum, Pectus ... ORPHA:582
Fatal Familial Insomnia
Weight loss, Apnea, Dysphagia OMIM:600072
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Death in childhood OMIM:246450
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
Trisomy 13
Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone ... ORPHA:3378
Oculodentodigital Dysplasia
Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Hypoglycemia, Camptodactyly of f... ORPHA:2710
Rhabdoid Tumor
Respiratory insufficiency, Weight loss ORPHA:69077
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagi... ORPHA:2131
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Cryptorchidism, Azoospermia, Decreased fertility in males, Failure to thrive, ... ORPHA:90791
Polymyositis
Anorexia, Respiratory insufficiency, Weight loss, Arthritis, Cough, Exertional dyspnea ORPHA:732
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Glucocorticoid Deficiency 1
Recurrent hypoglycemia, Failure to thrive OMIM:202200
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... ORPHA:1318
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Short metacarpal, Osteoporosis, Hypoglycemia OMIM:617190
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Genu valgum, Postaxial foot p... OMIM:225500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Aggressive behavior, Tapered finger, Large for gestational age, Asthma, Bilateral cr... ORPHA:544488
Nijmegen Breakage Syndrome
Cachexia, Respiratory failure, Recurrent pneumonia, Attention deficit hyperactivity disorder ORPHA:647
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Maternal diabetes, Cryptorchidism, Humeror... ORPHA:3404
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... ORPHA:90652
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Failure to thrive, Hypoglycemia OMIM:617156
Cholera
Miscarriage, Hypoglycemia, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Death in childhood OMIM:611126
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
8Q24.3 Microdeletion Syndrome
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Finger clinodactyly, Tics, ... ORPHA:508488
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Asthma, Oligozoospermia, Finger cli... ORPHA:8
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Cachexia, Osteoarthritis, Hip dislocation, Genu valgum, Pect... ORPHA:828
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Failure to thrive, Cachexia, Weight loss ORPHA:275761
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Dyspnea, Flexion contracture, Osteoporosis, Osteolysis, ... OMIM:614008
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hypoglycemia, Osteomyelitis leading to amputation due to slow healing fract... OMIM:256810
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Addison Disease
Failure to thrive, Salt craving, Premature ovarian insufficiency, Primary testicular failure, Ano... ORPHA:85138
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Isolated Complex I Deficiency
Diabetes mellitus, Failure to thrive, Hypoglycemia, Respiratory insufficiency ORPHA:2609
Hirschsprung Disease
Weight loss, Failure to thrive in infancy, Adducted thumb ORPHA:388
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Pectus excavatum, Flexion contracture, Respiratory failu... ORPHA:254528
Acute Adrenal Insufficiency
Salt craving, Decreased female libido, Hypoglycemia, Anorexia, Weight loss, Failure to thrive ORPHA:95409
Aromatase Deficiency
Eunuchoid habitus, Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... ORPHA:91
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Deeah Syndrome
Death in infancy, Neonatal respiratory distress, Cryptorchidism, Dysphagia, Death in adolescence,... OMIM:619004
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Failure to thrive, Small for gestational age, Hypoglycemia OMIM:617093
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Respiratory insufficiency, Sho... OMIM:269860
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Hypercapnia, Ankle flexion contra... ORPHA:2020
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular... ORPHA:3342
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Wheezing, Weight loss, Cough ORPHA:171876
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Glutaric Acidemia I
Failure to thrive, Hypoglycemia OMIM:231670
Reni Syndrome
Cryptorchidism, Hypogonadism, Hypoglycemia OMIM:617575
Focal Myositis
Limitation of joint mobility, Weight loss ORPHA:48918
Acute Monoblastic/Monocytic Leukemia
Weight loss, Anorexia, Exertional dyspnea ORPHA:514
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Leishmaniasis
Rhinitis, Anorexia, Weight loss ORPHA:507
Gm1 Gangliosidosis
Camptodactyly of finger, Joint stiffness, Weight loss, Abnormal diaphysis morphology, Abnormal ep... ORPHA:354
Eosinophilic Gastroenteritis
Asthma, Weight loss, Allergic rhinitis, Dysphagia ORPHA:2070
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidis... ORPHA:261344
Alg12-Cdg
Sandal gap, Proximal placement of thumb, Long fingers, Cryptorchidism, Recurrent pneumonia, Abnor... ORPHA:79324
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Hydrocele testis, Overlapping f... ORPHA:79330
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Coxa valga, Large for gestational age, Limita... ORPHA:254519
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Pectus excavatum, Cryp... ORPHA:2990
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Flexion contracture, Neonatal hypoglycemia OMIM:616271
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Obesity, Hand polydactyly, Attention deficit hyperactivity disorder... ORPHA:261197
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large for gestational age, Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wi... ORPHA:96334
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Erdheim-Chester Disease
Polydipsia, Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Dyspnea... ORPHA:35687
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sp... ORPHA:958
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Sudden episodic apnea, Respiratory insufficiency, Hypoketotic hypoglycemia ORPHA:159
Q Fever
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Weight loss, Cough, Pleural effusion ORPHA:781
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Cryptorchidism, Obesity, Weigh... ORPHA:251071
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... ORPHA:31204
Pfapa Syndrome
Arthritis, Weight loss ORPHA:42642
Toxic Epidermal Necrolysis
Respiratory distress, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough, Polydipsia ORPHA:537
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macroorchidism, Macrodactyly, Cachexia, Metatarsus valgus, Pulm... ORPHA:744
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Abnormal sperm motility, Female infertility, Pro... ORPHA:244
Schinzel-Giedion Syndrome
Respiratory distress, Abnormal clavicle morphology, Overlapping fingers, Overlapping toe, Failure... ORPHA:798
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... OMIM:118100
Kagami-Ogata Syndrome
Long clavicles, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-shaped thorax, Pul... OMIM:608149
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Osteogenesis Imperfecta
Osteopenia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho... ORPHA:666
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defe... OMIM:614935
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Joint stiffness, Dysphagia, Dense calvaria OMIM:252930
Kabuki Syndrome 2
Joint laxity, Hip dislocation, Short 5th finger, Decreased body weight, Prominent fingertip pads,... OMIM:300867
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg... ORPHA:85167
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Pectus excavatum, Cryptorchidism, Metaphyseal widening,... OMIM:234100
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Hypoglycemia, Arthritis ORPHA:810
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Hypoglycemia, Respiratory insufficiency, Respiratory failure, Failure to... OMIM:252010
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Thin ribs, ... ORPHA:2463
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Elbow ankylosis, Short metacarpal, Abnormal me... ORPHA:95699
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Thickened ribs, Dense calvaria, Joint stiffness OMIM:252900
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
X-Linked Agammaglobulinemia
Osteomyelitis, Sinusitis, Recurrent pneumonia, Weight loss, Arthritis, Failure to thrive ORPHA:47
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... ORPHA:324964
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Joint laxity, Postaxial polydactyly, Tapered finger, Small hand, Hip disloc... OMIM:300968
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Small for gestational age, Tapered finger, Short palm, Broad thumb OMIM:614501
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Failure to thrive, Hypoglycemia, Pneumonia ORPHA:90790
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia, Brachydactyly OMIM:608624
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Abnormal long bone morphology,... ORPHA:228123
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra... ORPHA:365
Alagille Syndrome
Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Clinodactyly of the 5th finger, ... ORPHA:52
Cockayne Syndrome
Diabetes mellitus, Cachexia, Cryptorchidism, Contractures of the large joints, Congenital contrac... ORPHA:191
Diamond-Blackfan Anemia 10
Respiratory distress, Supernumerary ribs OMIM:613309
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal rib morphology, Join... ORPHA:2050
Systemic Capillary Leak Syndrome
Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea ORPHA:188
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Small hand, Osteoporosis, Short fo... OMIM:615273
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Self-mutilation, Decreased body weight ORPHA:1051
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Abnormal... ORPHA:85184
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Join... OMIM:618019
Yao Syndrome
Arthritis, Asthma, Weight loss OMIM:617321
Mosaic Trisomy 8
Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, Limitation of... ORPHA:96061
Sheehan Syndrome
Dyspareunia, Decreased female libido, Hypoglycemia, Obesity, Impotence, Oligomenorrhea, Amenorrhea ORPHA:91355
Pseudo-Torch Syndrome 2
Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs OMIM:617397
Rubinstein-Taybi Syndrome 1
Respiratory distress, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Clin... OMIM:180849
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Weight loss ORPHA:65682
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Apnea, Tracheomalacia, Pectus excavatum, Thoracolumbar kyphosis, Osteopathia stri... OMIM:300373
Loeffler Endocarditis
Dyspnea, Weight loss, Cough ORPHA:75566
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia, Primary amenorrhea, Failure to... OMIM:619418
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypogonadotropic hypogonadism, Decreased testicular size, Hypoglycemia OMIM:616113
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemia, Epistaxis, Osteoporosis, Irregular menstruation, Gout, Increased suscep... ORPHA:79259
Chromosome 6Q24-Q25 Deletion Syndrome
Prominent fingertip pads, Small hand, Respiratory distress, Sandal gap OMIM:612863
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Hypoglycemia, Pulmonary arterial hypertension OMIM:614921
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Hyperactivity, Restlessness, Aggressive... OMIM:252940
Arboleda-Tham Syndrome
Respiratory distress, Brachydactyly, Neonatal respiratory distress, Sandal gap, Deviation of the ... OMIM:616268
Holoprosencephaly
Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Cryptorchidism, Respiratory insuff... ORPHA:2162
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Hypoglycemia, Limited elbow movemen... OMIM:218040
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Prominent calcaneus, Neonatal hypoglycemia, Congenital foot contractures ORPHA:565624
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Arachnodactyly, Craniosynostosis, Metatarsus adductus, Lateral clavicle... OMIM:182212
Short Syndrome
Diabetes mellitus, Insulin resistance, Weight loss, Joint hyperflexibility, Short palm, Brachydac... ORPHA:3163
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Respiratory distress, Joint stiffness, Flexion contracture, Pectus carinatum... ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypoglycemia, Pulmonary embolism, Pulmonary arterial hypertension, Failure ... ORPHA:79282
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... ORPHA:90051
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Rheumatoid arthritis, In... OMIM:180300
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypogonadism, Hypoglycemic seizures OMIM:262600
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... OMIM:617952
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Swelling of proximal interphalangeal joints, Pulmonary embolism, Cough, Dys... ORPHA:3260
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Limitation of joint mobi... ORPHA:93473
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Irregular menstruation, D... OMIM:269500
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Corona... OMIM:616294
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb OMIM:610536
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Pneumonia, Joint stiffness, Metaphyseal widening, Split hand, Flexion contr... OMIM:253200
Orthostatic Hypotension 1
Retrograde ejaculation, Neonatal hypoglycemia, Joint hypermobility, Brachydactyly OMIM:223360
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Hypoglycemic seizures, Dysphagia ORPHA:480864
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Hyperactivity, Aggressive behavior, Avascular necrosis of the capit... ORPHA:581
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hyp... ORPHA:3301
Mast Cell Sarcoma
Weight loss ORPHA:66661
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal ... ORPHA:83617
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Weight loss ORPHA:3208
Felty Syndrome
Sinusitis, Limitation of joint mobility, Recurrent pneumonia, Osteolysis, Synovitis, Weight loss,... ORPHA:47612
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Hypoglycemia OMIM:210210
Japanese Encephalitis
Respiratory distress, Stiff neck, Anorexia, Elbow flexion contracture, Respiratory paralysis, Abn... ORPHA:79139
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Bent Bone Dysplasia Syndrome 2
Osteopenia, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvarial ossificat... OMIM:620076
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Weight loss ORPHA:3226
Thymic Neuroendocrine Tumor
Osteopenia, Weight loss, Abnormal breath sound, Cough ORPHA:97289
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Recurrent fractures, Osteoporosis, Thin ribs, Tibial bowing, Sl... OMIM:601812
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Neonatal hypoglycemia ORPHA:445038
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Neonatal respiratory distress, Long clavicles, Arachnodactyly, Rocker bottom foot, Do... OMIM:265000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic bone, Fibul... OMIM:617925
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs, Short fi... OMIM:312150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia OMIM:251880
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Asthma, Respiratory insufficiency, Dysphagia, Weight loss, Arthritis, Cough ORPHA:183
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Weight loss, Re... OMIM:619377
Stüve-Wiedemann Syndrome
Respiratory distress, Osteopenia, Bowing of the long bones, Apnea, Camptodactyly of finger, Recur... ORPHA:3206
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia OMIM:619355
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... OMIM:610915
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Overlapping toe, Craniosynostosis, Lar... OMIM:213980
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis, Dysphagia ORPHA:319213
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Menkes Disease
Bowing of the long bones, Osteomyelitis, Hypoglycemia, Tarsal synostosis, Recurrent fractures, Pe... ORPHA:565
Mucolipidosis Type Ii
Hip contracture, Respiratory failure requiring assisted ventilation, Craniosynostosis, Limited wr... ORPHA:576
Gitelman Syndrome
Respiratory distress, Salt craving, Maternal diabetes, Insulin resistance, Gout, Glucose intolera... ORPHA:358
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Fanconi-Bickel Syndrome
Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to t... OMIM:227810
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Slender finger, Pectus carinatum OMIM:233600
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Missing ribs ORPHA:1834
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... OMIM:269300
Myhre Syndrome
Vertebral fusion, Overlapping toe, Small for gestational age, Joint stiffness, Cryptorchidism, Sh... OMIM:139210
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia ORPHA:100050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... ORPHA:99646
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperacti... ORPHA:649
Aggressive Systemic Mastocytosis
Anorexia, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture ORPHA:98850
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Met... OMIM:219800
Neuroendocrine Tumor Of The Colon
Bronchospasm, Anorexia, Weight loss ORPHA:100080
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Short palm, Aggressive behavior, Asthma, Nasal flaring, Obesity, Self-injurious behavior, Attenti... ORPHA:466943
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short tibia, Pneumothorax, Short femur OMIM:620306
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive ORPHA:99901
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the midd... OMIM:151050
Histiocytoid Cardiomyopathy
Failure to thrive, Tachypnea, Hypoglycemia, Cough ORPHA:137675
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis ORPHA:36234
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, F... ORPHA:85408
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Craniosynostosis ORPHA:1555
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs OMIM:619698
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion, Pro... ORPHA:1546
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs, Short fi... OMIM:253290
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac bones, Short thorax, Abnor... ORPHA:3003
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Oral-pharyngeal dysphagia OMIM:616878
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Hypoglycemia OMIM:615751
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Decreased fertili... ORPHA:90794
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Stiff neck, Femoral bowing, Short long bone, Narrow ches... OMIM:617022
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Infertility, Type I diabetes mellitus, Failure to thrive OMIM:212750
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Pituitary Apoplexy
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypoglycemia ORPHA:95613
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Cryptorchidism, Split hand, Abnormal rib morp... ORPHA:1300
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the crus of the helix ORPHA:137888
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Pectus excavatum, Abnormal rib morphology, Joint hyperf... ORPHA:77301
Peripheral Primitive Neuroectodermal Tumor
Abnormal thoracic spine morphology, Metrorrhagia, Anorexia, Weight loss ORPHA:370348
Eosinophilic Fasciitis
Arthritis, Weight loss ORPHA:3165
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, ... ORPHA:667
Juvenile Dermatomyositis
Dyspnea, Limitation of joint mobility, Dysphagia, Weight loss, Restrictive ventilatory defect, Ar... ORPHA:93672
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Narrow chest, Br... ORPHA:1517
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... ORPHA:340
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Incre... ORPHA:2769
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Failure to thrive, Hyperventilation ORPHA:255210
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Dysphagia, Weight loss, Aspiration pneumonia, Cough, Failure to thrive ORPHA:1018
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc... OMIM:276820
Al Amyloidosis
Dyspnea, Nonproductive cough, Weight loss, Dysphagia, Autonomic erectile dysfunction ORPHA:85443
Glycerol Kinase Deficiency
Small for gestational age, Hypoglycemia, Cryptorchidism, Osteoporosis, Pathologic fracture OMIM:307030
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... OMIM:117650
Giant Cell Arteritis
Epistaxis, Anorexia, Joint stiffness, Weight loss, Arthritis, Cough ORPHA:397
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion ORPHA:67
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Kbg Syndrome
Syndactyly, Vertebral fusion, Cryptorchidism, Rib fusion, Cutaneous syndactyly, Cervical ribs, Th... OMIM:148050
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Drug Reaction With Eosinophilia And Systemic Symptoms
Dyspnea, Interstitial pneumonitis, Weight loss, Cough ORPHA:139402
Thymoma
Dyspnea, Weight loss, Rheumatoid arthritis, Cough ORPHA:99867
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Anorexia, Weight loss ORPHA:100085
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture OMIM:618733
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Recurrent hypoglycemia, Neonatal death, Hyperglycemia, Failure to thrive OMIM:124000
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Cryptorchidism, Abnormal ri... ORPHA:534
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Repetitive compulsive behavior, Neonatal hypoglycemia ORPHA:66634
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Anorexia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Anorexia, Weight loss ORPHA:100082
Stevens-Johnson Syndrome
Dyspareunia, Dyspnea, Dysphagia, Weight loss, Restrictive ventilatory defect, Cough ORPHA:36426
Robinow Syndrome, Autosomal Recessive 1
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Joint laxity, Vert... OMIM:268310
Myhre Syndrome
Brachydactyly, Joint stiffness, Cryptorchidism, Abnormal rib morphology, Hypogonadism, Abnormal e... ORPHA:2588
Igg4-Related Aortitis
Asthma, Weight loss ORPHA:449400
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Dysphagia, Aggressive behavior ORPHA:572798
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia OMIM:255120
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Cerebral Visual Impairment
Neonatal hypoglycemia, Attention deficit hyperactivity disorder ORPHA:447788
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Irregular ossification of hand bones, Abnormal sternum ... OMIM:109400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Ce... ORPHA:2255
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Small for gestational age, Hypoglycemia, Tachypnea, Dysphagia, Hyperglycemia, F... OMIM:220111
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Hypoglycemia, Overweight, Delayed proximal femoral epiphyseal ossi... ORPHA:226307
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Limited elbow extension, Overlapping toe, Craniosynostosis OMIM:123790
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Medullary Thyroid Carcinoma
Weight loss, Dysphagia ORPHA:1332
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Arachnodactyly, Large for gestational age, Limitation of joint mobility, Asymmetry ... ORPHA:457359
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Cryptorchidism, Abnormal rib morphology, Aplasia/Hy... ORPHA:887
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Split hand, Hypoplasi... OMIM:200980
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation ORPHA:90068
Sarcoidosis, Susceptibility To, 1
Anorexia, Dyspnea, Clubbing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... OMIM:181000
Glycogen Storage Disease Ia
Fasting hypoglycemia, Osteoporosis, Gout, Hypoglycemia OMIM:232200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Osteoporosis, Decreased fertility, Reduced bone mineral density, Abnormality of t... ORPHA:168558
Reactive Arthritis
Osteomyelitis, Joint stiffness, Cartilage destruction, Respiratory insufficiency, Enthesitis, Wei... ORPHA:29207
Occipital Horn Syndrome
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate ... OMIM:304150
Kaposi Sarcoma
Weight loss ORPHA:33276
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Osteoporosis, Decreased fertility, Reduced bone mineral density, Abnormality of t... ORPHA:289548
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Pneumonia, Diabetes... ORPHA:125
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Large for gestational age, Short thumb, Cryptorc... OMIM:229850
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Dyspnea, Weight loss, Abnormal sternum morphology, Cough ORPHA:284
Tropical Endomyocardial Fibrosis
Orthopnea, Dyspnea, Pulmonary venous hypertension, Cachexia ORPHA:75565
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos... ORPHA:79404
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand p... OMIM:269150
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Elbow co... OMIM:208150
Adult-Onset Still Disease
Cartilage destruction, Restrictive ventilatory defect, Arthritis ORPHA:829
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea, Neonatal hypoglycemia OMIM:261740
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Joint stiffness OMIM:230500
Cap Polyposis
Weight loss ORPHA:160148
Adrenocortical Carcinoma
Diabetes mellitus, Abnormality of reproductive system physiology, Increased body weight, Weight loss ORPHA:1501
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Liposarcoma
Weight loss ORPHA:69078
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Weight loss, Glycosuria, Hypop... ORPHA:3337
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Narrow chest, Bifid ribs ORPHA:1394
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Hermansky-Pudlak Syndrome
Menometrorrhagia, Epistaxis, Anorexia, Dyspnea, Weight loss ORPHA:79430
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent hypoglycemia, Recurrent sinusitis, Failure to thrive ORPHA:293978
Polyarteritis Nodosa
Weight loss ORPHA:767
Rodrigues Blindness
Nasal flaring OMIM:268320
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Osteopetrosis, Dea... OMIM:612301
Lynch Syndrome
Death in infancy, Death in early adulthood, Flexion contracture, Weight loss, Attention deficit h... ORPHA:144
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... ORPHA:1507
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Protrusio acetabuli, F... OMIM:610682
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Restrictive ventilatory defect, R... ORPHA:420741
Perlman Syndrome
Cryptorchidism, Hypoglycemia, Large for gestational age OMIM:267000
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abnormal thorax m... ORPHA:740
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia... OMIM:244400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Dysphagia ORPHA:25
Tsh-Secreting Pituitary Adenoma
Osteopenia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormal... ORPHA:91347
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Sandal gap, Decreased fibular diameter, Pectus excavatum, Joint stiffness, Flexion co... OMIM:619127
Polycythemia Vera
Weight loss, Epistaxis, Respiratory insufficiency, Pulmonary embolism ORPHA:729
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Scapular winging, Weight loss, Respiratory insufficiency, Dysphagia OMIM:607459
Aicardi-Goutieres Syndrome 9
Failure to thrive, Osteoporosis, Self-mutilation, Weight loss OMIM:619487
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hypoketotic hypoglycemia ORPHA:157
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Rib fusion, Polyphagi... ORPHA:1606
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Listeriosis
Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Respiratory failure, Sep... ORPHA:533
Ethylene Glycol Poisoning
Tachypnea, Addictive alcohol use, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Acute Liver Failure
Hypoglycemia, Abnormal respiratory system physiology, Agitation, Hypocapnia, Abnormal pattern of ... ORPHA:90062
Familial Thrombocytosis
Pulmonary arterial hypertension, Miscarriage, Weight loss ORPHA:71493
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Thickened ribs, Pneumonia, Craniosynostosis, Joint stiffness, Pectus ex... ORPHA:309282
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Cystic Echinococcosis
Asthma, Abnormality of the testis size, Weight loss ORPHA:400
Immunodeficiency 31C
Osteopenia, Osteomyelitis, Diabetes mellitus, Bronchiectasis, Weight loss, Cough OMIM:614162
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Congenital Tufting Enteropathy
Arthritis, Failure to thrive, Weight loss ORPHA:92050
Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea OMIM:608710
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Brucellosis
Osteomyelitis, Miscarriage, Pneumonia, Anorexia, Small for gestational age, Orchitis, Knee osteoa... ORPHA:1304
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent... OMIM:227650
Generalized Glucocorticoid Resistance Syndrome
Infertility, Hypoglycemia, Oligomenorrhea, Oligozoospermia ORPHA:786
Tyrosinemia, Type I
Hypophosphatemic rickets, Failure to thrive, Hypoglycemia OMIM:276700
Cog1-Cdg
Osteopenia, Coxa valga, Rib fusion, Posterior rib gap, Flat acetabular roof, Short long bone, Pul... ORPHA:263508
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge... ORPHA:86822
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Hereditary Late-Onset Parkinson Disease
Weight loss, Agitation, Impulsivity, Dysphagia ORPHA:411602
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial hand polydactyly, Split... ORPHA:818
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Dec... ORPHA:508
Marburg Hemorrhagic Fever
Hypoglycemia, Anorexia, Aggressive behavior, Orchitis, Nonproductive cough, Arthritis ORPHA:99826
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hypoketotic hypoglycemia ORPHA:228308
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs OMIM:271520
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Weight loss ORPHA:37
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Preaxial h... ORPHA:280
Glycogen Storage Disease Ib
Osteoporosis, Gout, Hypoglycemia OMIM:232220
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Abnormal ... ORPHA:84
Neuroendocrine Tumor Of Stomach
Bronchospasm, Anorexia, Weight loss ORPHA:100075
Nephroblastoma
Weight loss ORPHA:654
Doors Syndrome
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... ORPHA:79500
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Rheumatoid arthritis ORPHA:49041
Refractory Celiac Disease
Osteoporosis, Weight loss ORPHA:398063
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Recurr... OMIM:225400
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Weight loss ORPHA:679
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Block vertebrae, Short long bone, Failure to th... OMIM:306955
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Small for gestational age, Craniosynostosi... OMIM:201750
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Pemphigus Vulgaris
Weight loss ORPHA:704
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... ORPHA:2907
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Pseudoepiphyses of the metacarpals, Small for g... OMIM:194190
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive, Abnormal testis morphology ORPHA:2556
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Castleman Disease
Dyspnea, Weight loss, Cough ORPHA:160
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal rib morphology, Small hand, Short foot, Thickened cortex of long bones, Broa... ORPHA:488434
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Primary Intestinal Lymphangiectasia
Pleural effusion, Weight loss ORPHA:90362
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Failure to thrive in infancy, Cryptorchid... OMIM:163950
Non-Acquired Panhypopituitarism
Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Infertility, Osteoporosis of vertebrae, ... ORPHA:90695
Renal Nutcracker Syndrome
Dyspareunia, Infertility, Dysmenorrhea, Weight loss ORPHA:71273
Weill-Marchesani Syndrome 1
Joint stiffness, Broad phalanges of the hand, Broad ribs, Broad metacarpals, Broad metatarsal, Br... OMIM:277600
Carney-Stratakis Syndrome
Weight loss, Dysphagia ORPHA:97286
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Moderate Hemophilia A
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage ORPHA:169805
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Polydactyly, Infertility, Osteoporosis o... ORPHA:95494
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Isolated Arrhinia
Respiratory distress, Absent nasal septal cartilage ORPHA:1134
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid ribs ORPHA:50
Charge Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Abnormal rib morphology... ORPHA:138
Weill-Marchesani Syndrome 2
Short metacarpal, Joint stiffness, Short metatarsal, Elbow flexion contracture, Short finger, Bro... OMIM:608328
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Hypoglycemia, Gout OMIM:232240
Familial Pancreatic Carcinoma
Diabetes mellitus, Anorexia, Weight loss ORPHA:1333
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Chronic Graft Versus Host Disease
Anorexia, Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Dysphagia, Weight... ORPHA:99921
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Recurrent pneumonia, Rib fusion, Supe... OMIM:304050
Generalized Arterial Calcification Of Infancy
Respiratory distress, Calcification of the auricular cartilage, Failure to thrive in infancy, Ost... ORPHA:51608
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Supern... OMIM:206900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Respiratory distress, Osteopenia, Congenital hip dislocation, Overlapping toe, Hyp... ORPHA:480880
Fructose Intolerance, Hereditary
Failure to thrive, Hypoglycemia, Glycosuria OMIM:229600
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, ... OMIM:157800
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Dysphag... ORPHA:2908
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... OMIM:192350
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Craniosynostosis, Pectus excavatum, Postaxial hand polydactyly, Recurre... OMIM:613610
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... ORPHA:261112
Familial Colorectal Cancer Type X
Flexion contracture, Attention deficit hyperactivity disorder, Weight loss ORPHA:440437
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Pectus excavatum, Osteopetrosis, Pulmonary arterial hypertension, Failure to... ORPHA:2785
Pagod Syndrome
Abnormal clavicle morphology, Abnormal testis morphology, Abnormal rib morphology, Death in infancy ORPHA:991
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Small for gestational age, Bifid distal phalanx of the thum... ORPHA:97360
Granulomatosis With Polyangiitis
Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest... ORPHA:900
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Aggressive behavior, Metatarsus adductus, Cryptorchidi... OMIM:607872
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Respiratory paralysis, Obesity, Weight loss ORPHA:79102
Beckwith-Wiedemann Syndrome
Hypoglycemia, Large for gestational age, Cryptorchidism, Obesity, Neonatal hypoglycemia ORPHA:116
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Small for gestational age, Pneumonia, Hypoplastic ilia, Lon... OMIM:264090
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Pallister-Hall Syndrome
Large for gestational age, Paroxysmal bursts of laughter, Mesoaxial polydactyly, Radial bowing, C... ORPHA:672
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Vipoma
Respiratory insufficiency due to muscle weakness, Diabetes mellitus, Anorexia, Weight loss ORPHA:97282
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss ORPHA:103918
Alkaptonuria
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... ORPHA:56
Systemic Mastocytosis With Associated Hematologic Neoplasm
Increased susceptibility to fractures, Osteoporosis, Weight loss ORPHA:98849
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Male infertility, Streak ovary, Unilateral cryptorchidism, Pectus excavatum, Bilat... ORPHA:1772
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Zttk Syndrome
Craniosynostosis, Flexion contracture, Rib fusion, Small hand, Short foot, Cervical ribs, Failure... OMIM:617140
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Multiple Myeloma
Osteopenia, Pathologic fracture, Pleural effusion, Weight loss ORPHA:29073
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull base, Short palm, B... OMIM:619727
Budd-Chiari Syndrome
Weight loss ORPHA:131
Gallbladder Neuroendocrine Tumor
Anorexia, Weight loss ORPHA:100086
Parathyroid Carcinoma
Testicular neoplasm, Osteoporosis, Weight loss, Dysphagia, Polydipsia ORPHA:143
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Abnormal cartilage morphology, Osteolysis ORPHA:2396
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Absent thumb, Rib fusion... ORPHA:500150
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... ORPHA:217085
Simple Cryoglobulinemia
Arthritis, Weight loss ORPHA:91139
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Upper... ORPHA:217093
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Alagille Syndrome 1
Hypoplasia of the ulna, Failure to thrive, Abnormal rib morphology, Short distal phalanx of finger OMIM:118450
Behçet Disease
Anorexia, Pulmonary embolism, Orchitis, Weight loss, Arthritis, Pleural effusion ORPHA:117
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Caroli Disease
Anorexia, Weight loss ORPHA:53035
Sotos Syndrome
Joint laxity, Hip contracture, Ankle flexion contracture, Aggressive behavior, Pectus excavatum, ... ORPHA:821
Postinfectious Vasculitis
Pneumonia, Anorexia, Orchitis, Weight loss, Arthritis ORPHA:48435
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... ORPHA:97214
Neurooculorenal Syndrome
Cryptorchidism, Recurrent hypoglycemia, Short 1st metacarpal, Short hallux OMIM:620305
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Neonatal respiratory distress, Narrow chest OMIM:614748
Craniorachischisis
Bifid sternum ORPHA:63260
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Hypoplasia of the ulna, Sagittal craniosynostosis, A... OMIM:218600
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Weight loss, Type I diabetes mellitus, Pleural effusion ORPHA:171
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Hypoplasia of the Leydig cells, Testicular fibrosis, Sh... ORPHA:64
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Klatskin Tumor
Weight loss ORPHA:99978
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... OMIM:233450
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Somatostatinoma
Diabetes mellitus, Anorexia, Weight loss ORPHA:97283
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia, Weight loss ORPHA:309031
Leptospirosis
Respiratory distress, Pleural effusion, Anorexia, Cough ORPHA:509
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Glucagonoma
Diabetes mellitus, Anorexia, Weight loss ORPHA:97280
Dermatomyositis
Pulmonary arterial hypertension, Arthritis, Respiratory insufficiency, Weight loss ORPHA:221
Plague
Respiratory distress, Arthritis, Acute infectious pneumonia, Anorexia ORPHA:707
Multiple Endocrine Neoplasia Type 1
Anorexia, Osteolysis, Reduced bone mineral density, Increased susceptibility to fractures, Weight... ORPHA:652
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Anorexia, Osteoporosis, Increased body weight, Sec... ORPHA:99889
Aicardi-Goutieres Syndrome 7
Arthritis, Pneumonia, Weight loss OMIM:615846
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Rat-Bite Fever
Arthritis, Oligoarthritis, Septic arthritis, Weight loss ORPHA:31205
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Absent radius, Sho... OMIM:214800
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Pneumonia, Osteomalacia, Anorexia, Bronchiectasis, Weight loss, Arthritis OMIM:619381
Ppoma
Anorexia, Weight loss ORPHA:97278
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Sarcoidosis
Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Weight loss, Pleural effusion, C... ORPHA:797
Pmm2-Cdg
Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hyp... ORPHA:79318
Grfoma
Anorexia, Weight loss ORPHA:97261
Zollinger-Ellison Syndrome
Increased glucagon level, Weight loss ORPHA:913
African Trypanosomiasis
Miscarriage, Abnormality of the menstrual cycle, Aggressive behavior, Weight loss, Impotence, Inf... ORPHA:3385
Kikuchi-Fujimoto Disease
Pleural effusion, Anorexia, Weight loss ORPHA:50918
Pancreatoblastoma
Weight loss ORPHA:677
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Arthritis, Weight loss OMIM:301074
Igg4-Related Kidney Disease
Interstitial pneumonitis, Chronic sinusitis, Prostatitis, Weight loss ORPHA:449395
Beckwith-Wiedemann Syndrome
Cryptorchidism, Neonatal hypoglycemia OMIM:130650
Malt Lymphoma
Weight loss ORPHA:52417
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Weight loss ORPHA:91500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Derl2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Derl2.

No publications found that use IMPC mice or data for Derl2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Derl2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Derl2tm325(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Derl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Derl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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