Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss, Aplas... ORPHA:141152
Congenital Muscular Dystrophy Due To Lmna Mutation
Narrow chest, Limitation of joint mobility, Flexion contracture, Cachexia, Respiratory insufficie... ORPHA:157973
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Dyspnea, Acute infectious pneumonia, Wheezing, Produc... ORPHA:60033
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Camptodactyly, Thoracic hypoplasia, B... OMIM:619751
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight ORPHA:314811
Pulmonary Blastoma
Dyspnea, Weight loss, Recurrent pneumonia, Cough ORPHA:64741
Pleural Mesothelioma
Respiratory distress, Abnormal thorax morphology, Cough, Pleural effusion, Dysphagia, Abnormal re... ORPHA:50251
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Perching Syndrome
Dysphagia, Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Christianson Syndrome
Pectus excavatum, Adducted thumb, Cachexia, Abnormal thorax morphology, Death in early adulthood,... ORPHA:85278
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology,... ORPHA:3268
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Pectus excavatum, Camptodactyly of finger, Respiratory i... OMIM:614399
Renpenning Syndrome
Sprengel anomaly, Joint stiffness, Pectus excavatum, Clinodactyly of the 5th finger, Cachexia, Ab... ORPHA:3242
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Dysphagia, Weight loss ORPHA:930
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness, Cachexia ORPHA:1144
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... ORPHA:70589
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Joint stiffness, Cachexia ORPHA:1216
Riboflavin Transporter Deficiency
Sleep apnea, Cachexia, Respiratory insufficiency, Hypogonadism, Dysphagia ORPHA:97229
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia, Respiratory insufficiency ORPHA:93941
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss, Cough ORPHA:70482
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Respiratory insufficiency, Brachydactyly, Bell-shaped thorax... OMIM:615633
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... OMIM:156530
Diaphanospondylodysostosis
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Absent or mini... ORPHA:66637
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, R... ORPHA:474
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity, Hypogonadism OMIM:615993
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism, H... OMIM:307500
Tuberculosis
Weight loss, Cough ORPHA:3389
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Respiratory distress ORPHA:26792
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mulibrey Nanism
Cachexia ORPHA:2576
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Decreased body weight, Small for gestational age, Polydactyly, Hy... ORPHA:231140
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Joint stiffness, Pectus excavatum, Flexion contracture, Reduced bone mineral density, Cachexia, A... ORPHA:1979
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Hypogonadism OMIM:616113
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Failure to thrive ORPHA:67046
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Failure to thrive OMIM:610090
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Apnea OMIM:300864
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity ORPHA:171706
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy OMIM:232700
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hyperparathyroidism, Transient Neonatal
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Osteopenia, Femoral bowing OMIM:618188
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Short thorax, Missing ribs, B... ORPHA:1801
Mehmo Syndrome
Hypoglycemia, Obesity, Male hypogonadism, Small for gestational age OMIM:300148
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness OMIM:300580
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Mcdonough Syndrome
Cachexia, Pectus excavatum ORPHA:2471
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Respiratory insufficiency, Death in childhood, Neonatal death, Hypoglycemia, D... OMIM:245400
Hypophosphatasia
Narrow chest, Recurrent fractures, Craniosynostosis, Respiratory insufficiency, Abnormal rib morp... ORPHA:436
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Respiratory insufficiency, Failure to thrive in infancy ORPHA:6
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Cough, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Anterior rib cuppi... OMIM:602271
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... OMIM:617895
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Distal arthrogryposis, Cachexia, Exertional dyspnea ORPHA:42
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Clinodactyly OMIM:300934
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Lar... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Cone-shaped epiphyses of the distal phalanges of the hand, Hypoglycemia, Dysph... OMIM:618958
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Slender long bone, Osteolysis, Carpal osteolysis, Abnormal epi... ORPHA:2774
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Odontochondrodysplasia 1
Narrow chest, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Metaphyse... OMIM:184260
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Axial Spondylometaphyseal Dysplasia
Osteopenia, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow great... ORPHA:168549
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Failure to thrive, Apnea OMIM:619048
Pancreatic And Cerebellar Agenesis
Joint stiffness, Failure to thrive, Apnea, Overlapping fingers, Pectus carinatum, Hypoglycemia, D... OMIM:609069
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Generalized osteosclerosis, Flared elbow metaphyses, Short lo... ORPHA:1423
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Clinodactyly of the 5th finger, Small for gestational age ORPHA:231147
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Neuropathy, Congenital Hypomyelinating, 3
Flexion contracture, Cachexia, Respiratory insufficiency, Arthrogryposis multiplex congenita, Lim... OMIM:618186
Odontochondrodysplasia
Narrow chest, Respiratory distress, Cone-shaped epiphysis, Square pelvis bone, Death in infancy, ... ORPHA:166272
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Mi... ORPHA:2759
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Failure to thrive, Abnormality of femur morphology, Metaphyseal dysplasia, Short ri... ORPHA:1842
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Short ribs, Respiratory insufficiency, Elbow flexion contr... ORPHA:1145
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Large for gestational age, Reactive hypo... ORPHA:276556
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Majeed Syndrome
Failure to thrive, Metaphyseal irregularity, Osteomyelitis, Increased bone mineral density, Flexi... ORPHA:77297
Ring Chromosome 10 Syndrome
Cachexia, Pectus excavatum, Sandal gap, Tapered finger ORPHA:1438
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Failure to thrive, Small for gestational age OMIM:614702
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Osteopenia, Cachexia, Tapered finger, Failure to thrive in infancy OMIM:616801
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Severe failure to thrive, Arachnodactyly, Cachexia, Small hand, Tapered distal p... ORPHA:371364
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Failure to thrive, Hypogonadism OMIM:617872
Temple Syndrome
Type II diabetes mellitus, Clinodactyly of the 5th finger, Small for gestational age, Small hand,... ORPHA:254516
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Large for gestational ... ORPHA:276575
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal metaphysis morphology, Death in infancy, Abnormal rib morphology ORPHA:1354
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Dysphagia, Weight loss ORPHA:298
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Abnormal rib morphology, Hypogonadism, Obesity, Dec... ORPHA:2234
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Shwachman-Diamond Syndrome 1
Narrow chest, Failure to thrive, Coxa vara, Respiratory distress, Metaphyseal chondrodysplasia, N... OMIM:260400
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Respiratory distress OMIM:614741
Kniest Dysplasia
Respiratory distress, Hip contracture, Delayed epiphyseal ossification, Pectus excavatum, Tibial ... OMIM:156550
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Death in infancy OMIM:617156
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cough, Tachypnea, Respiratory failure OMIM:263000
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Wheezing, ... ORPHA:79127
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Narrow chest, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Flynn-Aird Syndrome
Joint stiffness, Type II diabetes mellitus, Cachexia ORPHA:2047
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of proximal phalan... ORPHA:174
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Weight loss, Stridor ORPHA:142
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Thin ribs, Small for gestational age, Respiratory insufficien... OMIM:166210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Pectus car... ORPHA:93351
X-Linked Intellectual Disability, Cabezas Type
Clinodactyly of the 5th finger, Small hand, Cachexia, Camptodactyly of finger, Down-sloping shoul... ORPHA:85293
Whipple Disease
Polydipsia, Cachexia, Respiratory insufficiency, Arthritis, Cough, Erectile dysfunction, Insulin ... ORPHA:3452
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... ORPHA:1143
Aredyld Syndrome
Type II diabetes mellitus, Cachexia, Brachydactyly, Type I diabetes mellitus, Abnormal pelvic gir... ORPHA:1133
Thoracolaryngopelvic Dysplasia
Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t... OMIM:187760
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Generalized osteosclerosis, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly, Cachexia ORPHA:1389
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive ORPHA:67048
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Episodic tachypnea, Small for gestational age OMIM:615160
Endocardial Fibroelastosis
Hypoglycemia, Sandal gap ORPHA:2022
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Schwartz-Jampel Syndrome
Apnea, Pectus excavatum, Abnormally ossified vertebrae, Pectus carinatum, Genu valgum, Abnormal e... ORPHA:800
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... ORPHA:79237
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Camptodactyly of finger, Abnormal rib morphology ORPHA:1703
Pelizaeus-Merzbacher Disease
Joint stiffness, Respiratory insufficiency, Failure to thrive in infancy, Cachexia ORPHA:702
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... ORPHA:91359
2P21 Microdeletion Syndrome
Hypoglycemia, Failure to thrive, Hypogonadism ORPHA:163693
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Shashi-Pena Syndrome
Hypoglycemia, Osteoporosis OMIM:617190
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Cachexia, Recurrent hypoglycemia, Abnormality of the calcaneus, S... ORPHA:813
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Dyspnea, Neonatal death, Tachypnea, Co... OMIM:610921
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Decreased body weight, Pectus excavatum, Slender finger, Small for gestational age, Down-sloping ... ORPHA:391408
Diastrophic Dysplasia
Joint stiffness, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of f... ORPHA:628
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes, Respiratory distress, Tachypnea ORPHA:45452
Rett Syndrome
Cachexia, Apnea, Intermittent hyperventilation, Short foot OMIM:312750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Osteoporosis, Trunc... ORPHA:73272
Metatropic Dysplasia
Narrow chest, Joint stiffness, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnormal me... ORPHA:2635
Mitochondrial Complex I Deficiency, Nuclear Type 33
Dysphagia, Respiratory insufficiency, Hypoglycemia OMIM:618253
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Hypoplasia of the capital femoral epiphysis, Pectus carinatum, Glenoid fossa ... ORPHA:239
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
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spondylocostal Dysostosis 4, Autosomal Recessive
Rib fusion, Abnormal rib morphology, Short thorax, Missing ribs, Restrictive ventilatory defect, ... OMIM:613686
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Thin ribs, Neonatal death, Death in infancy, Joint hypermobility OMIM:300219
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus, Achilles tendon contracture ORPHA:2596
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Arthralgia of the hip, Abnormal cartilage mor... ORPHA:93284
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Glycerol Kinase Deficiency
Hypoglycemia, Small for gestational age, Osteoporosis, Pathologic fracture OMIM:307030
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Hyperglycemia, Tachypnea OMIM:220111
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Osteopenia, Failure to thrive, Osteoporosis ORPHA:369
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Respiratory failure, Death in infancy OMIM:619386
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Asthma, Clinodactyly of the 5th finger, Dysmenorrhea, Small for gestational age, Sy... ORPHA:397590
Meier-Gorlin Syndrome 1
Respiratory distress, Absent glenoid fossa, Pectus carinatum, Genu valgum, Absent sternal ossific... OMIM:224690
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Clinodactyly of the 5th finger, Prominent fingertip pads, Small for gestational age ORPHA:231137
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Neonatal asphyxia, Neonatal respiratory distress ORPHA:3006
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Osteoporosis ORPHA:48431
Tetrasomy 12P
Cachexia, Joint hyperflexibility ORPHA:884
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnorma... ORPHA:2097
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Respiratory insufficiency OMIM:618241
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Moebius Syndrome
Respiratory distress, Split hand, Hypogonadotropic hypogonadism, Brachydactyly, Short phalanx of ... OMIM:157900
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Flaring of... OMIM:612852
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia, Failure to thrive ORPHA:289504
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Hypoxemia, Respiratory insufficiency, Interstitial pneum... OMIM:610913
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Small hand, Upper limb undergrowth, Camptodactyly, Knee ... OMIM:608799
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age OMIM:616733
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Death in infancy, Neonatal respiratory distress OMIM:615042
19Q13.11 Microdeletion Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Toe clinodactyly, Cachexia, Congenital hip dis... ORPHA:217346
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal epiphysis morpholog... ORPHA:93267
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Small for gestational age, Respiratory insufficiency, Death in in... OMIM:615368
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... ORPHA:1164
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood OMIM:615597
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Absent in utero rib ossification... OMIM:608022
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Classic Galactosemia
Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Osteoporosis, Decreased fertili... ORPHA:79239
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Hodgkin Lymphoma
Dyspnea, Weight loss, Cough ORPHA:98293
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, Metacarpophalangeal joint contracture, Flexion contractu... ORPHA:544503
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Succinic Acidemia
Respiratory distress OMIM:600335
Cronkhite-Canada Syndrome
Cachexia, Tapered finger ORPHA:2930
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Apneic episodes in infancy OMIM:610006
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Postaxial... ORPHA:2519
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Holt-Oram Syndrome
Sprengel anomaly, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, ... ORPHA:392
Laron Syndrome
Short toe, Osteoarthritis, Brachydactyly, Truncal obesity, Hypoglycemia ORPHA:633
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Recurrent aspiration pneumonia, Restrictive ventilatory ... ORPHA:98897
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Chitayat Syndrome
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Hallux valgus OMIM:617180
Carnitine Deficiency, Systemic Primary
Hypoglycemia, Failure to thrive, Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Glucocorticoid Resistance, Generalized
Hypoglycemia, Infertility, Irregular menstruation OMIM:615962
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Failure to thrive OMIM:617950
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short femur, Maternal d... ORPHA:1988
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Insulinoma
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Reactive hypoglycemia, N... ORPHA:97279
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... ORPHA:133
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Neonatal hypoglycemia, Apneic episodes in infancy, Hypo... ORPHA:348
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility ORPHA:2058
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Ciliary Dyskinesia, Primary, 9
Cough, Chronic rhinitis, Recurrent sinusitis, Male infertility, Chronic sinusitis, Ciliary dyskin... OMIM:612444
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Hypoglycemi... OMIM:256810
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs, Short ribs... OMIM:266910
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... OMIM:608728
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, 11 pairs of ribs, Adducted thumb ORPHA:50810
Propionic Acidemia
Failure to thrive, Apnea, Osteoporosis, Tachypnea, Hypoglycemia OMIM:606054
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Choanal Atresia
Respiratory distress, Tracheomalacia, Craniosynostosis, Polydactyly, Abnormal nasal mucus secreti... ORPHA:137914
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosis of carpal bones, Abnormality ... ORPHA:1836
Lethal Kniest-Like Dysplasia
Narrow chest, Abnormal cartilage matrix, Short ribs, Hypoplastic ilia, Flared metaphysis, Anterio... ORPHA:2347
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Malaria
Respiratory distress ORPHA:673
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... OMIM:114290
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thoracic hypoplasia, Clinodact... OMIM:228520
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Distal arthrogry... OMIM:620011
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Juvenile Amyotrophic Lateral Sclerosis
Dysphagia, Cachexia, Lower-limb joint contracture, Upper-limb joint contracture ORPHA:300605
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss, Clubbing of toes ORPHA:2198
Aspergillosis
Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Chronic lung disease, Cough, Abn... ORPHA:1163
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Failure to thrive, Metaphyseal irregularity... OMIM:600081
Cooper-Jabs Syndrome
Reduced bone mineral density, Abnormal hip bone morphology, Camptodactyly of finger, Respiratory ... ORPHA:1488
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... OMIM:609616
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Immotile sperm, Reduced sperm motility, Wheezing, Cough, Male infertility, Chroni... OMIM:613807
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Hyperinsulinemic hypoglycemia, Large for gestational age, Neonatal hypoglycemia, Recurrent... ORPHA:79644
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Adducted thumb, Respiratory distress, Rocker bottom foot ORPHA:89844
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Maternal diabetes, Wheezing, Pneumothorax,... ORPHA:70588
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Large for gestational age, Hypoglycemia, Short proximal phalanx o... OMIM:616638
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Oromandibular Dystonia
Dysphagia, Weight loss, Respiratory distress ORPHA:93958
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Short foot, Short thorax, Abnormal enchondral ossification ORPHA:93298
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Pectus excavatum, Flexion contracture, Arachnodactyly, Osteopenia, Congenit... OMIM:271225
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Respiratory insufficiency, Brachydactyly, Bell... ORPHA:2021
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Short ... OMIM:259440
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Chronic rhinitis, Recurrent sinusitis, Male infertility, Reduced ... OMIM:617091
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Recurrent hypoglycemia, Pectus excavatum, Small for gestational age OMIM:616817
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Failure to thrive ORPHA:79096
Beta-Ketothiolase Deficiency
Oral aversion, Tachypnea, Hypoglycemia, Cough, Weight loss, Hyperglycemia ORPHA:134
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Failure to thrive, Polyphagia, Neonatal hypoglycemia OMIM:606407
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Restrictive ventilatory defect OMIM:608681
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Absent ossification of capital femoral epi... ORPHA:226313
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Timothy Syndrome
Hypoglycemia, Cutaneous syndactyly, Syndactyly, Pneumonia OMIM:601005
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Osteopenia, Hypogonadotropic hypogonadism, Hypoglycemia, Osteoporosis of... ORPHA:95619
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Stillbirth, Short ribs, Hypoplasia of the radi... OMIM:200600
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Infertility, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Cleidocranial Dysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Increased bone mineral ... OMIM:119600
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, ... OMIM:616897
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Failure to thrive, Respiratory distress OMIM:251000
Huntington Disease-Like 2
Weight loss ORPHA:98934
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Bannayan-Riley-Ruvalcaba Syndrome
Pectus excavatum, Cachexia, Hypoglycemia, Broad thumb, Joint hyperflexibility ORPHA:109
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Osteopenia, Camptodactyly, Abnormal rib morphology, Short foot, Failure to thrive in ... OMIM:611209
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Decreased body weight, Hyperinsulinemia, Type II... ORPHA:2298
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Decreased cranial base ossification, Short ribs, Hy... OMIM:151210
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... OMIM:269250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Tapered toe, Respiratory insufficiency, Tapered finger, Long fingers, Hypoglycemia, Nonket... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Death in childhood, Death in adolescence, Neonatal ... OMIM:619055
Wolman Disease
Cachexia ORPHA:75233
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... ORPHA:263455
Trisomy 18
Abnormal hip bone morphology, Cachexia, Camptodactyly of finger, Deviation of finger, Abnormal ri... ORPHA:3380
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Apnea OMIM:210200
Osteoglophonic Dysplasia
Broad metacarpals, Chordee, Failure to thrive, Broad phalanx, Respiratory distress, Craniosynosto... OMIM:166250
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Failure to thrive OMIM:614739
Seckel Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Cachexia, Cone-shaped epiphysis, Sandal gap, Hi... ORPHA:808
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Cachexia, Clubbing OMIM:175500
Ollier Disease
Joint stiffness, Osteolysis, Abnormal cartilage morphology, Abnormal metaphysis morphology, Multi... ORPHA:296
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Synd... OMIM:173800
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Congenital hip dislocatio... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Congenital hip dislocatio... ORPHA:98914
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Neonatal respiratory distress OMIM:248360
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Flexion contracture, Thin ribs, Flared iliac wing, Metaphyseal wide... OMIM:300232
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Failure to thrive ORPHA:2394
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Thin ribs, Craniosynostosis, Brachydactyly, Arthrogryposis multiplex conge... OMIM:618265
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Pectus carin... ORPHA:3082
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Pectus excavatum, Asymmetry of the thorax, Cachexia, Genu varum, Finger syndactyly ORPHA:1969
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Wheezing, Restrictive ventilatory defect, Pleural effusion... ORPHA:2902
Achondrogenesis Type 1A
Narrow chest, Recurrent fractures, Multiple rib fractures, Short thorax, Short foot, Abnormal enc... ORPHA:93299
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress, Eunuchoid habitus ORPHA:98805
Erythrokeratodermia Variabilis
Weight loss, Brachydactyly, Tapered finger, Diabetes mellitus ORPHA:317
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Thin ribs, Short femoral neck, Tapered finger, ... OMIM:618395
Camurati-Engelmann Disease
Slender build, Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of lon... ORPHA:1328
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Coxa vara, Delayed calcaneal ossification, Barrel-shaped chest, Flattened e... OMIM:183900
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Respiratory insuffi... OMIM:614874
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Failure to thrive, Death in infancy OMIM:619046
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Respiratory insufficiency, Short thumb, Abnormal rib morphology, ... ORPHA:1120
X-Linked Creatine Transporter Deficiency
Cachexia, Joint hyperflexibility ORPHA:52503
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Flexion contracture OMIM:618201
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Abnormal rib morphology, Joint hyperflexibility... ORPHA:2475
3M Syndrome
Enlarged thorax, Clinodactyly of the 5th finger, Thin ribs, Congenital hip dislocation, Hypoplast... ORPHA:2616
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Dysphagia, Dyspnea, Nocturnal hypoventilation, S... OMIM:211530
Cleidocranial Dysplasia
Narrow chest, Recurrent fractures, Short clavicles, Clinodactyly of the 5th finger, Coxa vara, Si... ORPHA:1452
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Hypoplasia of the radius, Brachydactyly, Abnormal rib morpholo... ORPHA:3015
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... ORPHA:2772
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Hip dislocation, Genu valgum, Thoracic kyphoscoliosis ORPHA:436174
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Diaphragmatic Hernia
Respiratory distress, Prominent sternum, Hypoxemia ORPHA:2140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiorespiratory arrest, Restrictive ventilatory defect, Dysphagia, Dyspnea, Scapu... ORPHA:26791
Greenberg Dysplasia
Anterior rib punctate calcifications, Short metacarpal, Barrel-shaped chest, 11 pairs of ribs, Te... OMIM:215140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Death in childhood, Glycosuria, Exertional dyspnea, Resp... OMIM:220110
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Myotonic Dystrophy 1
Dysphagia, Testicular atrophy, Respiratory distress, Hypogonadism OMIM:160900
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... ORPHA:321
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Apnea, Hyperventilation, Dyspnea OMIM:229700
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Brachydactyly, Abnormal rib morphology, Sandal gap, Obesity ORPHA:2180
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Death in adolescence, Premature ovarian insufficiency OMIM:610965
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Arthrogryposis multiplex cong... OMIM:608013
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Osteomyelitis, Cachexia, Interstitial pneumonitis, Type I diabetes mellitus... ORPHA:37042
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Failure to thrive, Death in infancy, Pleural effusion OMIM:617049
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed ossification of carp... OMIM:600002
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Apnea, Hypoglycemia, Impaired gluconeogenesis OMIM:261680
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Slender finger, Supernumerary vertebral ossification centers, Contracture of the prox... OMIM:609813
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Short thorax, Missing ribs ORPHA:1797
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones OMIM:619793
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive OMIM:614736
Dysosteosclerosis
Narrow chest, Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short sternum, Short r... OMIM:224300
Tetrasomy 5P
Respiratory distress, Overlapping toe, Failure to thrive, Pectus excavatum, Clinodactyly of the 5... ORPHA:3309
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Tachypnea, Bell-shaped thorax, Horizontal ribs, Pulmonary arterial hypertension OMIM:614857
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Recurrent fractures, Short long bone, Multiple rib fractures, Small for gestational... OMIM:616229
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Flexion contracture, Osteopenia, Respiratory insufficiency, Hypoglycemia, Hip ... OMIM:618005
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Respiratory failure requiring ... ORPHA:90060
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Brachydactyly, Abnormal rib morphology, Split hand, Finger syndactyly ORPHA:2145
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Limited wrist extension, Neonatal r... ORPHA:98915
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distr... OMIM:265120
Hypoadrenocorticism, Familial
Hypoglycemia, Apnea OMIM:240200
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Dislocation of the femoral head, Delayed epiphyseal ossification, Metaphyseal irregularity, Flexi... OMIM:616007
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Arachnodactyly, Dyspnea, Respiratory failure ORPHA:2707
Prune Belly Syndrome
Failure to thrive, Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Decreas... ORPHA:2970
Primary Myelofibrosis
Cachexia ORPHA:824
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Small for gestational age, Hypoketotic hypoglycemia, Ta... ORPHA:26793
Septopreoptic Holoprosencephaly
Dysphagia, Abnormal rib morphology ORPHA:280195
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia, Weight loss ORPHA:2126
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Failure to thrive, Primary amenorrhea, Death in infancy ORPHA:95496
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Death in early adulthood, Dysphagia, Weight loss OMIM:603041
Severe Congenital Nemaline Myopathy
Flexion contracture, Thin ribs, Adducted thumb, Abnormal thorax morphology, Arthrogryposis multip... ORPHA:171430
D-Glyceric Aciduria
Hypoglycemia, Failure to thrive, Neonatal respiratory distress OMIM:220120
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Thin ribs, Large for gestational age, Neonatal asphyxia, Respiratory insufficiency d... ORPHA:169189
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia, Abnormal thorax morphology OMIM:201910
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Hypoxemia, Rheumatoid arthritis, Crackles, Whee... ORPHA:79128
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Short distal phalanx of finger, Abnormal bone ossification, Thin ribs, Triangular s... ORPHA:73230
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Neonatal death, Glycosuria, Respiratory distress OMIM:231680
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Clinodactyly of the 5th finger, 2-3 toe syndactyly OMIM:618905
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Abnormal rib morphology, ... ORPHA:2319
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Abnormal rib morpho... ORPHA:2522
Huntington Disease
Decreased body mass index, Polyphagia, Abnormal libido, Weight loss, Choking episodes, Oral-phary... ORPHA:399
Infant Acute Respiratory Distress Syndrome
Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Azoospermia ORPHA:2578
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Li... ORPHA:1486
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Pectus excavatum, Flared iliac wing, Flexion contracture, Metaphyseal widen... OMIM:617303
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Marfan Syndrome
Slender build, Pectus excavatum, Arachnodactyly, Osteopenia, Cachexia, Osteoporosis, Pectus carin... ORPHA:558
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Pectus carinatum, Abnormal epiphysis morphology, Bowing of the lon... ORPHA:175
Immunodeficiency 27A
Hypoplasia of the femoral head, Abnormal bronchus physiology, Pneumonia, Salmonella osteomyelitis... OMIM:209950
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bone, Thoracic h... ORPHA:1505
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Narrow chest, Respiratory distress, Tracheomalacia, Brachydactyly, Syndactyly, Clinodactyly, Neon... OMIM:217980
Craniofaciofrontodigital Syndrome
Respiratory distress, Finger joint hypermobility, Osteopenia, Osteoporosis, Pectus carinatum, Lar... ORPHA:363705
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Limited el... OMIM:604922
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short... OMIM:208500
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Small for gestational age, Syndactyly, Short distal phalanx of th... OMIM:180860
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures, Hypogonadism OMIM:262600
Osteosarcoma
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... ORPHA:668
Fanconi-Bickel Syndrome