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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Aids Wasting Syndrome
Cachexia, Weight loss, Anorexia ORPHA:90081
Christianson Syndrome
Arthrogryposis multiplex congenita, Inappropriate laughter, Death in early adulthood, Abnormal th... ORPHA:85278
Short Stature Due To Ghsr Deficiency
Abnormality of body weight, Hypoglycemia, Decreased body weight ORPHA:314811
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Weight loss ORPHA:141152
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... OMIM:619751
Congenital Muscular Dystrophy Due To Lmna Mutation
Narrow chest, Limitation of joint mobility, Death in infancy, Joint hypermobility, Cachexia, Flex... ORPHA:157973
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Renpenning Syndrome
Joint stiffness, Abnormal thumb morphology, Cachexia, Sprengel anomaly, Pectus excavatum, Abnorma... ORPHA:3242
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness, Cachexia ORPHA:1144
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Pulmonary Blastoma
Dyspnea, Weight loss ORPHA:64741
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Joint stiffness, Cachexia ORPHA:1216
3-Methylglutaconic Aciduria Type 1
Failure to thrive, Hypoglycemia ORPHA:67046
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Pleural Mesothelioma
Respiratory distress, Abnormal thorax morphology, Weight loss, Dyspnea, Dysphagia ORPHA:50251
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Perching Syndrome
Respiratory distress, Camptodactyly, Dysphagia, Joint contracture OMIM:617055
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Camptodactyly of finger, Respiratory distress, Pectus excavatum, Dysphagia OMIM:614399
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Superior rib anomalies, Glucose intolerance, Hypergonadotropic ... OMIM:307500
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... OMIM:617405
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Obesity, Aggressive behavior, Small for gestational age OMIM:300148
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... OMIM:609052
Mulibrey Nanism
Cachexia ORPHA:2576
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity, Hypogonadism, Polydactyly OMIM:615993
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Joint stiffness, Abnormal thorax morphology, Cachexia, Weight loss, Pec... ORPHA:1979
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Riboflavin Transporter Deficiency
Hypogonadism, Aggressive behavior, Cachexia, Dysphagia ORPHA:97229
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Polydactyly, Decreased body weight, Clinodactyly of the 5th finger, Neonatal hypogl... ORPHA:231140
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Idiopathic Bronchiectasis
Dyspnea, Cachexia, Clubbing ORPHA:60033
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Fasting hypoglycemia ORPHA:171706
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro... OMIM:254210
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276580
Mcdonough Syndrome
Pectus excavatum, Cachexia ORPHA:2471
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Exertional dyspnea, Hypoglycemia ORPHA:42
Mantle Cell Lymphoma
Weight loss, Anorexia ORPHA:52416
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Joint stiffness, Undulate ribs, Missing ribs, Bowing ... ORPHA:1801
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... OMIM:156530
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of finger, Meta... ORPHA:2774
Laryngeal Neuroendocrine Tumor
Weight loss, Exertional dyspnea, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Narrow chest, Thoracolumbar kyphosis, Radial bo... OMIM:151210
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal rib morphology ORPHA:93941
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Postaxial polydac... OMIM:615633
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin... ORPHA:276608
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hypogonadism, Obesity, Joint hyp... ORPHA:85293
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Failure to thrive, Hypoglycemia, Cone-shaped epiphyses of the distal phalanges of... OMIM:618958
Odontochondrodysplasia 1
Pectus carinatum, Metaphyseal cupping, Narrow chest, Respiratory distress, Irregular epiphyses, C... OMIM:184260
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Reactive hypoglycemi... ORPHA:276556
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Failure to thrive in infancy, Hip contracture, 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
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Clinodactyly OMIM:300934
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, 2-3 toe syndactyly, Cachexia, Limb joint contracture, Flexion contracture, Arthro... OMIM:618186
Ring Chromosome 10 Syndrome
Pectus excavatum, Cachexia, Sandal gap, Tapered finger ORPHA:1438
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ... ORPHA:276575
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal metaphysis morphology, Death in infancy, Abnormal rib morphology ORPHA:1354
Odontochondrodysplasia
Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Death in infancy, ... ORPHA:166272
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Small hand, Elbow flexion contracture, Knee flexion contracture, Hip con... ORPHA:371364
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive, Hypoglycemia OMIM:619048
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia, Hypergonadotropic hypogonadism ORPHA:298
Temple Syndrome
Small hand, Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia, Clinodactyly ... ORPHA:254516
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Respiratory distress,... OMIM:617895
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Decreased fertility, Abnorma... ORPHA:2234
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Recurrent Respiratory Papillomatosis
Tracheomalacia, Failure to thrive, Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dy... ORPHA:60032
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Obesity, Femoral bowing, Short... ORPHA:174
Rett Syndrome
Bruxism, Apnea, Stereotypical hand wringing, Intermittent hyperventilation, Cachexia, Short foot OMIM:312750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Clinodactyly, Hypogonadism, Clinodactyly of ... ORPHA:73272
Lethal Recessive Chondrodysplasia
Narrow chest, Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Short lo... ORPHA:1423
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Dumbbell-shaped fe... OMIM:156550
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Flynn-Aird Syndrome
Joint stiffness, Cachexia, Type II diabetes mellitus ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive, Death in infancy OMIM:616974
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Aredyld Syndrome
Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Type II diabetes mellitus, Cach... ORPHA:1133
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis mo... ORPHA:93351
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, S... OMIM:187760
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Postaxial hand polydactyly ORPHA:1389
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Diaphyseal undertubulation, Abnormal rib morpho... ORPHA:2790
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Joint hypermobility, Arachnodactyly, Missing ribs, Abnormal rib morphology,... ORPHA:2759
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Dysphagia, Failure to thrive OMIM:613561
Schwartz-Jampel Syndrome
Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones, Cachexia, Sprengel... ORPHA:800
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Silver-Russell Syndrome
Insulin resistance, Abnormality of the calcaneus, Sandal gap, Recurrent hypoglycemia, Failure to ... ORPHA:813
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Cronkhite-Canada Syndrome
Tapered finger, Cachexia, Anorexia ORPHA:2930
Endocardial Fibroelastosis
Sandal gap, Hypoglycemia ORPHA:2022
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Dyspnea, Tracheobronchomalacia, Small for gestational age ORPHA:70589
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea, Small for gestational age, Hypoglycemia OMIM:615160
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Shwachman-Diamond Syndrome 1
Narrow chest, Failure to thrive, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyse... OMIM:260400
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Hypoglycemia, Decreased body weight, Joint hypermobility, Down-slop... ORPHA:391408
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hsd10 Mitochondrial Disease
Aggressive behavior, Restlessness, Agitation, Hypoglycemia OMIM:300438
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... ORPHA:77297
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Respiratory distr... OMIM:617102
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia OMIM:617872
Classic Galactosemia
Hypoglycemia, Premature ovarian insufficiency, Attention deficit hyperactivity disorder, Decrease... ORPHA:79239
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormal epiphysis morphology, Failure to thrive, Abnormal diaphysis morphology, Ab... ORPHA:1842
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,... ORPHA:1143
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Metatropic Dysplasia
Narrow chest, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodacty... ORPHA:2635
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip dysplasia,... ORPHA:544503
Hypophosphatasia
Narrow chest, Failure to thrive in infancy, Bowing of the long bones, Abnormal rib morphology, Cr... ORPHA:436
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys... ORPHA:93284
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Dysphagia ORPHA:254875
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death OMIM:245400
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint hyp... ORPHA:2097
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Narrow chest, Thoracic hypoplasia, Respiratory distress, Broad ribs, Genu ... OMIM:613848
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Finger joint contracture, Osteoporosis, Flexion cont... ORPHA:48431
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis... OMIM:157900
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Clinodactyly of the 5th finger, Small for gestational age, Hypoglycemia, Prominent fingertip pads ORPHA:231137
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Tetrasomy 12P
Cachexia, Joint hypermobility ORPHA:884
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Failure to thrive, Hypoglycemia ORPHA:369
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis, Death in adolescence, Thic... OMIM:122860
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Diarrhea 13
Failure to thrive, Recurrent hypoglycemia OMIM:620357
Whipple Disease
Insulin resistance, Polydipsia, Cachexia, Arthritis, Anorexia, Erectile dysfunction ORPHA:3452
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Genu valgum, Horizontal inferior border of scapula, Metaphyseal dysplasia, ... ORPHA:239
Spermatogenic Failure 63
Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnormal metaphysis mo... ORPHA:93267
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Hypoglycemia, Failure to thrive, Respiratory distress, Sandal gap, Short humerus, Sh... OMIM:607143
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility OMIM:300219
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus, Achilles tendon contracture ORPHA:2596
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
X-Linked Creatine Transporter Deficiency
Cachexia, Hyperactivity, Self-mutilation, Joint hypermobility ORPHA:52503
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Hypoglycemia ORPHA:289504
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Recurre... OMIM:166210
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Dysphagia, Small for gestational age, Hypoglycemia OMIM:618253
Immunodeficiency 95
Respiratory distress OMIM:619773
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Failure to thriv... ORPHA:217346
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, P... OMIM:224690
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia, Anorexia OMIM:619386
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Amyotrophic Lateral Sclerosis
Dyspnea, Cachexia, Dysphagia, Agitation ORPHA:803
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cuppe... OMIM:614524
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Hypoglycemia, Ectrodactyly, Polydactyly, Dysmenorrhea, Attention deficit hypera... ORPHA:397590
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Attention deficit hyperactivity disorder, Hypoglycemia OMIM:620211
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Dysphagia, Failure to thrive, Joint contracture ORPHA:35708
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Broad ribs, Flarin... OMIM:612852
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Small hand, Failure to thrive, Upper limb undergrowth, Respiratory dis... OMIM:608799
Diastrophic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal clavicle morphology, Camptodac... ORPHA:628
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Dihydrolipoamide Dehydrogenase Deficiency
Death in childhood, Hypoglycemia OMIM:246900
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... ORPHA:1988
Achondroplasia
Radial bowing, Flared metaphysis, Thoracic hypoplasia, Respiratory distress, Femoral bowing, Limi... OMIM:100800
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Increa... ORPHA:97279
Pancreatic And Cerebellar Agenesis
Pectus carinatum, Failure to thrive, Hypoglycemia, Hyperglycemia, Joint stiffness, Apnea, Overlap... OMIM:609069
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing of fingers, Cachexia, Clubbing, Anorexia OMIM:175500
Fryns-Smeets-Thiry Syndrome
Patellar aplasia, Joint hypermobility, Arachnodactyly, Cachexia, Hip dislocation ORPHA:2058
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Premature ovarian insufficiency, Small for ges... ORPHA:79237
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Asymmetry of the thorax, Finger syndactyly, Cachexia, Anorexia, Pectus excavatum, Genu varum ORPHA:1969
Laron Syndrome
Short toe, Hypoglycemia, Brachydactyly, Truncal obesity, Osteoarthritis ORPHA:633
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Flared metaphysis, Short ribs, ... OMIM:187601
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses, Small epiphys... OMIM:608728
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age OMIM:616733
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Weight loss, Dysphagia ORPHA:142
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Weight loss, Dysphagia ORPHA:2198
Pyridoxine-Dependent Epilepsy
Restlessness, Hypoglycemia ORPHA:3006
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood OMIM:615597
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Joint stiffness, Cachexia ORPHA:702
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypoglycemia OMIM:610006
Diaphanospondylodysostosis
Tracheomalacia, Thoracic hypoplasia, Respiratory distress, Bell-shaped thorax, Absent in utero ri... OMIM:608022
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo... OMIM:602196
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia, Failure to thrive, Agitation OMIM:619046
Propionic Acidemia
Failure to thrive, Hypoglycemia, Apnea, Tachypnea, Osteoporosis OMIM:606054
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive OMIM:245590
Carnitine Deficiency, Systemic Primary
Respiratory distress, Impaired gluconeogenesis, Failure to thrive, Recurrent hypoglycemia OMIM:212140
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder,... OMIM:617600
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia ORPHA:300605
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss, Anorexia ORPHA:79242
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Failure to thrive OMIM:263000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Anorexia ORPHA:79312
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Pectus excavatum OMIM:617180
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Bro... OMIM:228520
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the humerus, Synostosis of carpal bones, Camptodactyly ... ORPHA:1836
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Weight loss, Anorexia ORPHA:1302
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Mu... OMIM:259440
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Small for gestational age, Failure to thrive OMIM:614702
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... ORPHA:263455
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Oral aversion, Tachypnea, Weight loss, Anorexia, Agitation ORPHA:134
Infantile Krabbe Disease
Respiratory distress, Cachexia, Failure to thrive ORPHA:206436
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic epi... ORPHA:348
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Limitation of joint mob... ORPHA:1328
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog... ORPHA:2347
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Death in infancy OMIM:615042
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Failure to thrive, Hypergonadotropic hypogonadism OMIM:606407
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog... ORPHA:2519
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Non-Acquired Isolated Growth Hormone Deficiency
Genu valgum, Neonatal hypoglycemia, Abdominal obesity ORPHA:631
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Adducted thumb, 11 pairs of ribs, Failure to thrive ORPHA:50810
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility, Osteoporosis of... ORPHA:95619
Oromandibular Dystonia
Respiratory distress, Bruxism, Weight loss, Dysphagia ORPHA:93958
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Abnormal femora... OMIM:200600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Motor stereotypy, Failure to thrive, Agitation ORPHA:927
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Huntington Disease-Like 2
Weight loss ORPHA:98934
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short thorax, Short foot ORPHA:93298
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Pectus excavatum, Down-sloping shoulders, Small for gestational age, Recurrent hypoglycemia OMIM:616817
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation ORPHA:91359
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Respiratory distress, Arachnodactyly, Multiple prenatal f... OMIM:271225
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Malaria
Respiratory distress ORPHA:673
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Thoracic hypoplasia, Hypoglycemia, Large for gestational age, Sho... OMIM:616638
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Stillbirth, Thoracic hypoplasia, Short ribs, Dumbbell-shaped ... OMIM:269250
Septopreoptic Holoprosencephaly
Dysphagia, Impulsivity, Abnormal rib morphology ORPHA:280195
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Dysphagia, Adducted thumb ORPHA:89844
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Bannayan-Riley-Ruvalcaba Syndrome
Broad thumb, Hypoglycemia, Joint hypermobility, Cachexia, Pectus excavatum ORPHA:109
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Hypoglycemia OMIM:614739
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Hypoglycemia, Death in childhood, Death in infancy, Neonatal death, Death in a... OMIM:619055
Wolman Disease
Cachexia ORPHA:75233
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hypoglycemia ORPHA:2394
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Weight loss ORPHA:411703
Bachmann-Bupp Syndrome
Hypoglycemia, Large for gestational age, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:619075
Trisomy 18
Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnormal hip bone morpholo... ORPHA:3380
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Shortening of all phalanges of ... OMIM:114290
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Respiratory distress, Femo... OMIM:618188
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Paradoxical respiration, Distal arthrogry... OMIM:620011
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... OMIM:215140
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Slender long bone, Short thorax, Hypop... ORPHA:2616
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus, Brachydactyly, Tapered finger ORPHA:317
Ollier Disease
Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal metaphysis mo... ORPHA:296
Xfe Progeroid Syndrome
Death in adolescence, Cachexia, Failure to thrive, Premature ovarian insufficiency OMIM:610965
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... ORPHA:3082
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Clinodactyly of the 5th finger, Joint hypermobility, Cachexia,... ORPHA:808
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Unilateral brachydactyly, Synd... OMIM:173800
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Slender finger, Failure to thrive OMIM:250940
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Large for gestational age, Apnea, Hyperinsulinemic hypoglycemia, Neonatal... ORPHA:79644
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Barrel-s... OMIM:223800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exer... OMIM:610921
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
White Forelock With Malformations
Finger syndactyly, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Clinodactyly o... ORPHA:2475
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia ORPHA:5
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Failure to thrive, Hypoglycemia OMIM:210200
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia ORPHA:79096
Myotonic Dystrophy 1
Respiratory distress, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia OMIM:160900
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Short thorax, Short foot,... ORPHA:93299
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Death in early adulthood, Cachexia, Weight loss, Dysphagia OMIM:603041
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Large for g... ORPHA:226313
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture, Failure to thrive OMIM:618201
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, Short foot, ... OMIM:166250
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal rib mor... ORPHA:2345
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Obesity, Sprengel anomaly, Brachydactyly, Abnormal rib morphology ORPHA:2180
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Slender finger, Contracture of the proximal interphalangeal joint of the 2nd finger, ... OMIM:609813
Central Diabetes Insipidus
Weight loss, Polydipsia, Failure to thrive, Anorexia ORPHA:178029
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Genu valgum, Hip dislocation, Fasting hypoglycemia ORPHA:436174
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Short femoral neck, Obesity, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia o... OMIM:618395
Silver-Russell Syndrome 1
Short middle phalanx of the 5th finger, Fasting hypoglycemia, Clinodactyly of the 5th finger, Sho... OMIM:180860
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Posterior rib fusion, Short thorax, Abnormal rib morphology ORPHA:1797
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca... OMIM:119600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Decreased body weight, Decreased calvarial ossification, Brachydact... OMIM:618265
Prune Belly Syndrome
Congenital hip dislocation, Failure to thrive, Decreased fertility, Abnormal rib morphology, Pect... ORPHA:2970
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Short thorax, Abnormal metaphysis ... ORPHA:2484
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Large for gestational ag... ORPHA:552
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Dysphagia ORPHA:98805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Decreased skull o... OMIM:616897
Pituitary Stalk Interruption Syndrome
Death in infancy, Failure to thrive, Hypoglycemia, Primary amenorrhea ORPHA:95496
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Tachypnea ORPHA:264675
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Diabetes mellitus ORPHA:140896
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Cach... ORPHA:37042
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Respiratory distress, Overlapping fingers, Overlapping toe, Attention deficit h... OMIM:619383
Long-Olsen-Distelmaier Syndrome
Death in childhood, Failure to thrive, Hypoglycemia OMIM:620609
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Hypoglycemia ORPHA:391428
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Nipah Virus Disease
Respiratory distress, Anorexia ORPHA:99825
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Hypoglycemia OMIM:251000
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis ORPHA:2145
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoglycemia, Flared met... OMIM:616007
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Dysphagia OMIM:620375
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Ketotic hypoglycemia, Apnea, Failure to thrive OMIM:620646
Gaucher Disease, Perinatal Lethal
Thoracic hypoplasia, Respiratory distress, Apnea, Decreased body weight, Neonatal death, Dysphagi... OMIM:608013
Laryngomalacia
Respiratory distress OMIM:150280
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Abnormal rib morphology ORPHA:2578
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Res... OMIM:620369
Lethal Congenital Contracture Syndrome 5
Thin ribs, Congenital contracture, Death in infancy, Flexion contracture, Small for gestational age OMIM:615368
Proprotein Convertase 1/3 Deficiency
Obesity, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Primary amenorrhea, Hypoinsulinemia OMIM:600955
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Broad ribs, Obesity, Genu valgum, Limited elbow extension, Broad long bone diaphyse... OMIM:301066
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Apnea, Impaired gluconeogenesis, Fasting hypoglycemia OMIM:261680
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal rib morph... ORPHA:1486
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Neonatal death OMIM:245650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Abnormal rib morphology, Pectus excav... ORPHA:2522
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Metaphyseal cupping of metacarpals, Cone-shaped capital femoral epiphysis, Short finge... OMIM:300232
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, Hypoinsulinemia ORPHA:2126
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Type I diabetes mellitus, Dysphagia OMIM:620166
Propionic Acidemia
Hypoglycemia ORPHA:35
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Missing ribs, Abnorma... ORPHA:1488
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Histidinuria-Renal Tubular Defect Syndrome
Rounded middle phalanx of finger, Short middle phalanx of finger, Hypoglycemia ORPHA:2158
Silver-Russell Syndrome 2
2-3 toe syndactyly, Clinodactyly of the 5th finger, Neonatal hypoglycemia OMIM:618905
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Recurrent fractures, Joint hypermobility, Decreased calvarial ossificat... OMIM:616229
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Radioulnar synostosis, Abnormal metacarpal morphology, Hypoplasia of... ORPHA:2319
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia OMIM:618120
Isaacs Syndrome
Weight loss ORPHA:84142
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Joint stiffness, Decreased libido, Infertility, Abnormal metacarpophalangeal joint... ORPHA:465508
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Brachydactyly, Short palm ORPHA:3217
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Hyperventilation, Apnea, Hypoglycemia OMIM:229700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Aggressive behavior, Severe temper tantrums, Hypoglycemia OMIM:617710
Three M Syndrome 2
Thin ribs, Short 5th finger, Pectus carinatum, Slender long bone, Clinodactyly, Prominent calcane... OMIM:612921
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Narrow chest, Respiratory distress, Femoral bowing, Tibial bowing, Neonat... OMIM:616482
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, 11 pa... OMIM:300863
Tetrasomy 5P
Failure to thrive, Respiratory distress, Overlapping toe, Short hallux, Long fingers, Clinodactyl... ORPHA:3309
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Bell-shaped thorax, Failure to thrive, Horizontal ribs OMIM:614857
Hypoadrenocorticism, Familial
Apnea, Hypoglycemia OMIM:240200
Spondyloepiphyseal Dysplasia Congenita
Pectus carinatum, Respiratory distress, Limited hip movement, Delayed pubic bone ossification, Ba... OMIM:183900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Obesity, Hypoketotic hypoglycemia, Tachypnea, Overweigh... ORPHA:26793
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal diaphysis morphology, Camptodactyly of finger, Broad... ORPHA:2021
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Death in infancy, Hypoventilation, Elbow contracture OMIM:620275
Osteosarcoma
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... ORPHA:668
Choanal Atresia
Tracheomalacia, Respiratory distress, Polydactyly, Craniosynostosis, Choking episodes ORPHA:137914
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Narr... ORPHA:1452
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Hypoglycemia, Elbow flexion contracture, Apnea, Knee flexion contracture, Death in i... OMIM:608836
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Weight loss, Generalized bone deminera... ORPHA:199299
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Overtubulated long bones OMIM:619793
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Failure to thrive, Flared metaphysis, Death in infancy, Decreased s... OMIM:602361
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Failure to thrive, Glycosuria, Bowing of the lon... ORPHA:2088
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Decreased skull ossification, Stenosis of the medullary cavity of the long... ORPHA:93324
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges o... ORPHA:73230
Alfadhel Syndrome
Aggressive behavior, Nasal flaring, Joint hypermobility OMIM:620655
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Gen... ORPHA:321
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morphology, Hypogonadotropic hy... ORPHA:3068
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Abnormal thorax morphology, Hypoglycemia OMIM:201910
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Diabetes mellitus ORPHA:36238
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glycosuria, Hypoglycemia, Neonatal death OMIM:231680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Failure to thrive, Hypoglycemia, Dysmenorrhea, Increased body weight, Oli... ORPHA:264580
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia,... ORPHA:93259
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Hyperactivity, Thoracic hypoplasia ORPHA:457485
Spondylocostal Dysostosis 1, Autosomal Recessive
Rib fusion, Vertebral fusion, Block vertebrae, Death in infancy OMIM:277300
Juvenile Huntington Disease
Weight loss, Hyperactivity ORPHA:248111
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Joint hypermobility, Short clavicles, S... ORPHA:370930
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Mu-Heavy Chain Disease
Osteoporosis, Weight loss, Osteolysis ORPHA:100024
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea ORPHA:178320
Mucopolysaccharidosis-Plus Syndrome
Pectus carinatum, Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wi... OMIM:617303
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypoglycemia OMIM:615962
Attrv30M Amyloidosis
Weight loss, Impotence ORPHA:85447
D-Glyceric Aciduria
Tongue thrusting, Failure to thrive, Hypoglycemia OMIM:220120
Thyroid Lymphoma
Respiratory distress, Dyspnea, Dysphagia ORPHA:97285
Huntington Disease-Like 1
Abnormal shoulder morphology, Weight loss, Restlessness ORPHA:157941
Dicarboxylic Aminoaciduria