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Gene: Kcnj2 MGI:104744

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
potassium inwardly-rectifying channel, subfamily J, member 2
Synonyms:
Kir2.1,  IRK1,  Kcnf1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Kcnj2 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.

The table below shows human diseases predicted to be associated to Kcnj2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... ORPHA:141152
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Dysphagia, Camptodactyly OMIM:617055
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... ORPHA:294975
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Polyhydramnios, Edema, Macroglossia, Short long b... ORPHA:1423
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Neuralgic Amyotrophy
Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis ORPHA:2901
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Aggressive b... OMIM:251255
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Short finger, Tapered finger OMIM:302000
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat... ORPHA:1832
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Death in ado... OMIM:619751
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... OMIM:246560
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Te... OMIM:614669
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ... OMIM:156510
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... OMIM:614399
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Aggressive behavior, High pal... ORPHA:85279
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl... ORPHA:397973
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, High palate, Bilatera... OMIM:618142
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration OMIM:251850
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr... ORPHA:166272
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:3201
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Epistaxis, Short lingual frenulum, Dental crowding, Hypoplas... ORPHA:293939
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation... OMIM:108721
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Rocker bottom foot, Micrognathia, Carious teeth, Coxa valga, Recurrent... OMIM:214150
Harlequin Ichthyosis
Sudden cardiac death, Respiratory insufficiency, Dehydration, Self-injurious behavior, Hand polyd... ORPHA:457
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Micrognathia, Respiratory insufficiency due to muscle weakn... OMIM:300580
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Spli... OMIM:157900
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,... ORPHA:100057
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmo... ORPHA:330012
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... ORPHA:2414
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... ORPHA:1278
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Toe syndactyly, Dehydration, Dysphagia, Cone-shaped epiphyses of the distal phalanges... OMIM:618958
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly OMIM:300934
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Edema, Right ventricular failure, Reduced forced vital capacity... ORPHA:2302
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, A... ORPHA:3098
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Polydactyly, Choking episodes, Tracheom... ORPHA:137914
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Hamartoma of tongue, Micrognathia, ... ORPHA:2754
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla... ORPHA:776
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... OMIM:136760
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... ORPHA:2669
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Keipert Syndrome
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... ORPHA:2662
Odontochondrodysplasia 1
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Death in infanc... OMIM:184260
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Polyhydramnios, Micrognathia, High palate, Prenatal death, Camptodactyly, Neo... OMIM:618393
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... ORPHA:2257
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... ORPHA:93316
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... ORPHA:1307
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat... OMIM:616300
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... OMIM:619793
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly OMIM:615984
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ... ORPHA:245
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Hypertensio... OMIM:166300
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition, Short distal phalanx of finger ORPHA:2776
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,... ORPHA:2751
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc... ORPHA:1143
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... ORPHA:1302
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... OMIM:612651
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Triceps weakness, Weakness of long finger extensor m... ORPHA:98913
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Metaphyseal spurs, Postaxial... OMIM:613091
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Intestinal malrotation,... OMIM:617866
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... ORPHA:100050
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure,... ORPHA:60041
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspi... OMIM:300484
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Accessory oral frenulum... OMIM:258860
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation... ORPHA:1529
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Postaxial polydactyly, Hypoplasia of the maxilla, Conical tooth, Diastem... OMIM:619142
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip ORPHA:85287
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Lo... ORPHA:261295
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv... OMIM:612292
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Cleft soft palate, Sandal gap, Micrognathia, Abnormality of the dentition, Gingival... OMIM:618529
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R... OMIM:265120
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... ORPHA:1106
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... OMIM:612776
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Death in infancy, ... OMIM:615042
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy... ORPHA:50251
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... OMIM:616331
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... ORPHA:90652
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Trisomy 4P
Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, ... ORPHA:1738
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... OMIM:617926
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narr... OMIM:608154
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Long philtrum, Abnormal v... ORPHA:90653
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... ORPHA:3015
Solar Urticaria
Edema, Periorbital edema, Dyspnea, Angioedema, Abnormal tongue morphology, Wheezing, Urticaria, D... ORPHA:97230
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Smooth philtrum, Micrognathia, High, narrow palate, Small hand, Upper limb ... OMIM:608799
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,... OMIM:606242
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Dehydration, Anorexia ORPHA:79312
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Polyhydramnios... ORPHA:2759
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... OMIM:192445
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Tetrasomy 5P
Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Congestive heart fai... ORPHA:3309
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Talipes equinovarus, Dysphagia OMIM:150260
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Malar flatt... ORPHA:93262
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Cyanosis, Posta... OMIM:619879
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ... OMIM:610910
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... ORPHA:439822
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... ORPHA:950
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Long palm, High palate OMIM:300676
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Joubert Syndrome 17
Hyperventilation, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Clubbing, Heart m... ORPHA:2038
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Abnormal eating behavior, Wide mouth, Obsessiv... ORPHA:544254
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Peric... ORPHA:199241
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn... ORPHA:2707
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndac... ORPHA:3304
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93259
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Congenital Myasthenic Syndrome
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Polyhydramnios, I... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Polyhydramnios, I... ORPHA:98914
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Familial Cold Urticaria
Urticaria, Polydipsia, Erythema, Dehydration ORPHA:47045
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness, Short distal phalanx of finger OMIM:300266
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... OMIM:201550
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Cough, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... OMIM:114300
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Autosomal Agammaglobulinemia
Sinusitis, Malabsorption, Bronchiectasis, Dehydration, High palate, Cough ORPHA:33110
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... OMIM:305400
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger... OMIM:212720
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Diaphanospondylodysostosis
Respiratory distress, Narrow pelvis bone, Cleft palate ORPHA:66637
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Micrognathia, Polyhydramnios, Aglossia, Cleft palate, Narro... OMIM:202650
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Schilbach-Rott Syndrome
Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn... OMIM:164220
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, H... ORPHA:178320
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... ORPHA:192
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Myopathy, Centronuclear, 5
Hip contracture, Micrognathia, Dilated cardiomyopathy, Respiratory insufficiency, Mitral regurgit... OMIM:615959
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemo... OMIM:620278
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... ORPHA:254864
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Cleft palate, Abnormal fibula mor... ORPHA:1988
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Asthma, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Atte... ORPHA:397590
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... OMIM:614091
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Downt... OMIM:615761
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Hyperactivity, Arachnodactyly,... OMIM:309520
Kniest Dysplasia
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ... OMIM:156550
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Dehydration ORPHA:28
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Hyperactivity, Restlessness, Micr... OMIM:300534
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, High palate, Neonatal death, Retrognathia OMIM:300219
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Hydrolethalus
Micromelia, Micrognathia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... ORPHA:2189
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... ORPHA:435638
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, High palate... OMIM:271225
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, ... OMIM:614815
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Stickler Syndrome, Type Ii
Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequence, Cleft pal... OMIM:604841
Central Diabetes Insipidus
Polydipsia, Dehydration, Anorexia ORPHA:178029
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, C... OMIM:617925
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... OMIM:257850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Restrictive ventilat... OMIM:218000
Cohen Syndrome
Short metacarpal, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High,... OMIM:216550
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni... ORPHA:596
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... ORPHA:314655
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... ORPHA:137888
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Intermittent hyperventilation, Aggressive behavior, Preaxial polydactyly, Abnormal... ORPHA:163681
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Enteric Anendocrinosis
Dehydration, Portal hypertension, Malabsorption ORPHA:83620
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Polyhydramnios, Micrognathia, Trismus, Brachioradialis areflexi... OMIM:616271
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... ORPHA:36238
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic... OMIM:217980
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Submucou... OMIM:613805
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb ORPHA:2091
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Oligohydramnios ORPHA:261304
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Hypoplasia ... ORPHA:178303
Dysostosis, Stanescu Type
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... ORPHA:1798
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, High palate, Talipes equinovarus OMIM:620011
Rapp-Hodgkin Syndrome
Syndactyly, Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious te... OMIM:129400
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m... OMIM:243605
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... OMIM:614753
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Bifid uvula OMIM:619239
W Syndrome
Hypoplasia of the ulna, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus adductus, Submu... ORPHA:2804
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca... OMIM:147891
Crisponi/Cold-Induced Sweating Syndrome 1
Micrognathia, Carious teeth, Trismus, Tapered finger, Dyspnea, Elbow flexion contracture, Narrow ... OMIM:272430
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Rocker bottom foot, Dysphagia, Adducted thumb ORPHA:89844
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Micrognathia, Jaundice, Dehydration, Hip dysplasia, Oligohydramnios OMIM:208085
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Tricuspid regurgitation, Hypoplasia of the maxilla, Thick vermilion border, Lo... ORPHA:228396
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Compulsive behavior... ORPHA:177907
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Edema, Dehydration ORPHA:103910
Osteoglophonic Dysplasia
Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio... OMIM:166250
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Esophageal atresia, Preaxial han... OMIM:610536
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, High palate, Hypoplastic iliac... ORPHA:763
Acromelic Frontonasal Dysostosis
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Cleft palate, Patel... OMIM:603671
Tarp Syndrome
Finger syndactyly, Cyanosis, Apnea, Single transverse palmar crease, Rocker bottom foot, Microgna... ORPHA:2886
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, Joint contractur... OMIM:614407
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... OMIM:119800
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Exaggerated cupid's bow, Cardiac conduction abnormality, Anorexia, O... ORPHA:2131
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Joubert Syndrome 20
Postaxial polydactyly, Aggressive behavior, 4-5 toe syndactyly, Respiratory insufficiency, Self-m... OMIM:614970
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... OMIM:615503
Reticular Dysgenesis
Dehydration, Malabsorption ORPHA:33355
Chitayat Syndrome
Hallux valgus, Respiratory distress, Polyhydramnios, Thick vermilion border, Tracheomalacia, Brac... OMIM:617180
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Lymphedema, Triangular mouth, Flattened epiphysis, Genu val... OMIM:607131
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors OMIM:618737
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Micrognathia, 2-3 toe syndactyly, Narrow palate, Respiratory insufficiency, Gingi... OMIM:618186
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D... ORPHA:93958
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Premature... ORPHA:3342
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha... OMIM:119600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Single transverse ... OMIM:614701
Craniofaciofrontodigital Syndrome
Respiratory distress, Edema, Polyhydramnios, Finger joint hypermobility, Pericardial effusion, Gi... ORPHA:363705
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast... OMIM:151210
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... OMIM:277170
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Narro... ORPHA:2588
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... OMIM:619580
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Congenital hip dislocation, Deviation of finger, Narrow mouth, Mala... ORPHA:2412
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the... ORPHA:2554
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd... OMIM:106260
Kagami-Ogata Syndrome
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Pulmonic steno... OMIM:608149
Duane-Radial Ray Syndrome
Syndactyly, Anal stenosis, Hypoplasia of the ulna, Aganglionic megacolon, Radial deviation of the... OMIM:607323
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Achondroplasia
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Po... OMIM:100800
Brachycephaly, Trichomegaly, And Developmental Delay
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... OMIM:617412
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Deep philt... ORPHA:404440
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Lymphede... ORPHA:314679
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing... OMIM:224690
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Edema of the dorsum of feet, Tapered finger, Edema of the dor... ORPHA:544503
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat... ORPHA:98915
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, Polydactyly, High palate, Clinodactyly of the 5th finger ORPHA:231140
Beta-Ketothiolase Deficiency
Edema, Anorexia, Tachypnea, Dehydration, Hypertension, Agitation, Hypotension, Cough, Oral aversion ORPHA:134
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon OMIM:235750
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy OMIM:606054
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger... ORPHA:896
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad hallux, Arachnodactyly, Aggressive behavior, Hypoplasia of the maxilla, Hip dislocation, Th... ORPHA:481152
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility,... ORPHA:335
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla... OMIM:311900
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Hamartoma of tongue, Micromelia, Postaxial polydactyly, Polyhydramnios, Access... OMIM:616546
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Elbow flexion... ORPHA:1145
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Respiratory insufficiency, Dehydration ORPHA:27
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93260
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Thin upper lip vermilion, Tricuspid regurgita... OMIM:612863
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Esophageal Atresia
Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Polyhydramnios, Pylori... ORPHA:1199
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ... ORPHA:2549
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Smooth philtrum, Scapular winging, Tented upper lip vermilio... OMIM:615582
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, Camptodactyly of toe, 2-3 finger syndactyly, Cleft palate, Im... ORPHA:158687
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax... OMIM:210710
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly OMIM:614261
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted... OMIM:211530
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Heart murm... ORPHA:3426
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Nonimmune hydrops fetalis, Polyhydramni... OMIM:608013
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocation, Coxa vara, ... OMIM:183900
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... OMIM:268305
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia... OMIM:617895
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Polyphagia OMIM:617119
Cholera
Tachycardia, Miscarriage, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneu... ORPHA:173
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... ORPHA:65759
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ... OMIM:609166
3Mc Syndrome 3
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly OMIM:248340
Congenital Short Bowel Syndrome
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... OMIM:615237
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Malar fla... OMIM:620157
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... OMIM:613561
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Cystinosis
Portal hypertension, Malabsorption, Dehydration, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Mucopolysaccharidosis, Type Ix
Finger joint hypermobility, Submucous cleft hard palate, Bifid uvula, Acetabular erosions OMIM:601492
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Dehydration, Gingivitis, Per... ORPHA:534
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Adducted thumb, Deep palmar crease, Short philtrum, Retrognathia, Smooth philt... ORPHA:293725
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Cyanosis, Left-to-right shunt, Intercostal retractions, Crackles, Righ... ORPHA:1329
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... OMIM:620183
Diaphanospondylodysostosis
Respiratory distress, Micrognathia, Increased nuchal translucency, Cleft palate, Respiratory insu... OMIM:608022
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip ver... OMIM:618950
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe,... OMIM:620369
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... ORPHA:226313
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Polyhydramnios, Hydrops fetalis, Tetraphocom... OMIM:215140
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal fingertip morphology, Edema, Ab... ORPHA:79404
Netherton Syndrome
Malabsorption, Asthma, Dehydration, Urticaria, Emphysema ORPHA:634
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... OMIM:614976
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Progeroid facial appearance, Hypo... OMIM:231070
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Overlapping toe, High palate, Thick vermilion b... OMIM:619383
Diamond-Blackfan Anemia 6
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Mitral regurgitation, Triphalangeal thu... OMIM:612561
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... ORPHA:50814
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Meckel Syndrome, Type 8
Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus OMIM:613885
Joubert Syndrome 23
Tachypnea, Polydactyly, Apnea OMIM:616490
Van Maldergem Syndrome 2
Irregular dentition, Short fourth metatarsal, Ulnar deviation of the hand, Tented upper lip vermi... OMIM:615546
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i... ORPHA:2780
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys... OMIM:616462
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia OMIM:606164
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cree Mental Retardation Syndrome
Rocker bottom foot, Cutaneous finger syndactyly, Cleft soft palate, Micrognathia OMIM:606851
Cystic Fibrosis
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... OMIM:219700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress, Dysphagia ORPHA:240103
Tetanus
Respiratory distress, Tachycardia, Trismus, Tachypnea, Hypertension, Bradycardia, Dysphagia ORPHA:3299
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... ORPHA:560
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Polyhydramnios, Micrognathia, Deep philtrum, Dent... ORPHA:329178
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Asthma, Dysphagia, Clinodactyly of the 2nd finger, Wide... ORPHA:251061
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... ORPHA:70588
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Avascular necrosis of the capital femoral epiphysis, ... OMIM:619377
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Crouzon Syndrome
Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate ORPHA:207
Nipah Virus Disease
Respiratory distress, Anorexia, Hypotension, Cough ORPHA:99825
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Respiratory insufficiency, Short long bone, Brachydactyly OMIM:615633
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermilion, Slender lon... OMIM:613804
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Prominent superficial veins, Flexion contracture of finger, Prematurel... OMIM:601812
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congestive ... ORPHA:367
Diamond-Blackfan Anemia 21
Aortic regurgitation, Hallux valgus, Cutis marmorata, Sandal gap, Tapered finger, Micrognathia, P... OMIM:620072
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Dysphagia, St... ORPHA:142
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Dehydration, Hypovolemic shock, Cough, Arrhythmia ORPHA:171876
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Polyhydramnios, Microgn... OMIM:114290
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod... ORPHA:454836
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Palmoplantar blistering, Palmoplantar kerat... ORPHA:2309
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Short hallux, Tapered fing... OMIM:608156
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Cardiac arrest, High palate, Hypertrophic cardiomyopathy,... OMIM:604377
Lowry-Maclean Syndrome
Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t... ORPHA:2409
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnios, High palate... ORPHA:79330
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... OMIM:115197
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu... OMIM:174300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Micrognathia, Gingival overgrowth, Dehydration, Macroglossia, High... ORPHA:96191
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig... OMIM:619314
Pitt-Hopkins Syndrome
Aganglionic megacolon, Single transverse palmar crease, Hiatus hernia, Tapered finger, Aggressive... ORPHA:2896
Frontorhiny
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi... ORPHA:391474
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Bilateral talipes equinovarus, Cyanotic episode, Micrognathia ORPHA:284417
Recon Progeroid Syndrome
Prominence of the premaxilla, Arachnodactyly, Dental crowding, Progeroid facial appearance, Proxi... OMIM:620370
Adnp Syndrome
Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... ORPHA:404448
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hypoplasia of t... ORPHA:794
Osteogenesis Imperfecta, Type X
Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia... OMIM:613848
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Cardiac arrest, Edema, Anorexia, Jaundice, Dilated cardiomyopathy, Tachypnea, Dehydration,... ORPHA:20
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios, Narrow mouth, Mandibular aplasia, Microglossia ORPHA:990
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preax... ORPHA:261344
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... ORPHA:2750
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Pericar... OMIM:139210
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ... OMIM:101800
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Dehydration, Orofaci... ORPHA:92050
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Micrognathia, D... OMIM:613792
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... OMIM:300106
Succinic Acidemia
Respiratory distress OMIM:600335
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615108
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachnodactyl... ORPHA:536467
Pulmonary Alveolar Microlithiasis
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough... ORPHA:60025
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Polysyndactyly With Cardiac Malformation
Syndactyly, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Lambotte Syndrome
Preaxial foot polydactyly, Retrognathia, Narrow mouth OMIM:245552
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Micrognathia, Co... ORPHA:1071
Dend Syndrome
Clinodactyly of the 4th finger, Downturned corners of mouth, Dehydration, Long philtrum ORPHA:79134
Sepsis In Premature Infants
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, E... ORPHA:90051
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Preaxial hand polydactyly, Foot polydactyly, Attention deficit hyperactivit... ORPHA:210548
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Gastritis, Congestive h... ORPHA:31826
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Triceps weakness ORPHA:86812
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress ORPHA:2596
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Myocardi... ORPHA:183
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Dehydration, Death in childhood OMIM:560000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, Anteriorly placed a... ORPHA:1555
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... OMIM:614175
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Apnea, Single transverse palmar crease, Rocker bottom foot, Micrognat... OMIM:617527
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Broad palm, Narrow palate, Mitral regurgitation, Pu... OMIM:277600
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Overlapping toe, Gingival overgrowth, Narrow palate, Anteriorl... OMIM:123790
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Median cleft pala... OMIM:617402
Oligomeganephronia
Branchial cyst, Micrognathia, Dehydration, Hypertension, Polydipsia ORPHA:2260
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... OMIM:149730
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Abnormal thumb morphology... ORPHA:1120
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left... ORPHA:99104
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Bilateral single transverse palmar creases, Palpebral edema, Polyhydramnios... ORPHA:50810
Breath-Holding Spells
Cyanosis OMIM:607578
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:615109
Biemond Syndrome Ii
Preaxial hand polydactyly OMIM:210350
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Pelger-Huet Anomaly
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... OMIM:169400
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate OMIM:607361
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga OMIM:109120
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Short lingual frenulum, Congestive heart failure, Midgut malrotat... ORPHA:2326
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Smooth philtrum, Postaxial polydactyly, Tapered finger, Abnormality of the ... OMIM:300968
Arthrogryposis Multiplex Congenita 6
Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Adduct... OMIM:619334
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Respiratory distress ORPHA:2140
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... OMIM:611560
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Polyhydramnios... OMIM:300990
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... OMIM:615948
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... OMIM:619950
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Native American Myopathy
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... ORPHA:168572
Stickler Syndrome, Type I
Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Ro... OMIM:108300
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Aggressive behavior, Submucous cleft hard palate, Downt... OMIM:619680
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Distal Deletion 19P
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum ORPHA:96129
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... ORPHA:2316
Meier-Gorlin Syndrome 3
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the patella, Dy... OMIM:613803
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, For... OMIM:251230
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... ORPHA:2753
Lamellar Ichthyosis
Everted lower lip vermilion, Dehydration, Abnormality of the dentition ORPHA:313
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Kinsship Syndrome
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth... OMIM:619297
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Dehydration OMIM:264350
Shigellosis
Pneumonia, Anorexia, Intestinal perforation, Myocarditis, Ulcerative colitis, Dehydration, Urtica... ORPHA:810
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior OMIM:237310
Weill-Marchesani Syndrome 2
Short metacarpal, Hypoplasia of the maxilla, Congestive heart failure, Short metatarsal, Broad pa... OMIM:608328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... OMIM:619103
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol... OMIM:263200
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinod... OMIM:619721
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Apnea, Micrognathia, Hypoplasi... ORPHA:2462
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Oligohydramnios OMIM:616733
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Malabsorption, Carious teeth, Congestive heart failure, Dyspnea, Xero... ORPHA:220393
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia, Dehydration ORPHA:2290
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor... OMIM:222765
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga... OMIM:607143
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Short philtrum, Everted lower li... OMIM:601499
Braddock Syndrome
Preaxial hand polydactyly, Pulmonary arterial hypertension, Neonatal respiratory distress, Microg... ORPHA:52047
Stüve-Wiedemann Syndrome
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Abnor... ORPHA:3206
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Dehydration OMIM:620125
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Cutis marmorata, Polydactyly, Smooth philtrum OMIM:602501
Branchioskeletogenital Syndrome
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the dentition, Hypoplasia... ORPHA:1299
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Dehydration, Syncope, Orthostatic syncope, Rhinitis ORPHA:230
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... ORPHA:1553
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Metatarsus adductus, Metaphyseal widenin... OMIM:182212
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill... ORPHA:1101
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Abnormal metacarpal morphol... ORPHA:2095
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Dehydration OMIM:203400
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger OMIM:167730
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Increased... OMIM:609460
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Jaundice, Ascites, Dehydration ORPHA:1667
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter ORPHA:391428
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia ORPHA:99742
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Episodic tachypnea, Pneumonia, Pericard... ORPHA:26793
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... ORPHA:860
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Overlapping toe, Polyhydramnios, Micrognathia, Hypoplasi... OMIM:213980
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Tapered finger, Heart murmur, Short finger, Acrocyanosis ORPHA:1867
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... ORPHA:96334
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Short metacarpal, ... OMIM:108720
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... OMIM:619122
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Tricusp... ORPHA:97214
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Oral ulcer, Cough, Pleural effusion ORPHA:3392
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia ORPHA:782
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct... ORPHA:137675
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Dehydration OMIM:610600
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Postaxial polydactyly, Polyhydramnios, Accessory oral fre... OMIM:617088
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea... ORPHA:59315
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Allergic rhinitis, Angioedema, Asthma, Urticaria, Chr... OMIM:256500
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... ORPHA:69085
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Rhizomelia, Congestive heart failure, Tibial bowing, Femoral... OMIM:616482
Malaria
Respiratory distress ORPHA:673
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Treacher-Collins Syndrome
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... ORPHA:861
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... ORPHA:740
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension, Dehydration ORPHA:556030
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognat... OMIM:180849
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity, Tibial torsion ORPHA:33069
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Polyhydramnios, Narrow greater sciatic notch, Short phalanx... ORPHA:508533
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... OMIM:211380
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Respiratory failure, Intersti... ORPHA:330021
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Dehydration OMIM:177735
Cleft Soft Palate
Cleft soft palate OMIM:119570
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Expanded metaca... OMIM:182250
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Finger syndactyly, Prematurely aged appearance, Abnormal dental enamel mor... ORPHA:2658
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Congestive heart failure, Metaphyseal widening, Recurrent pneumonia, Clubbi... OMIM:617303
Meckel Syndrome, Type 2
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... OMIM:603194
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrow... OMIM:158350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Congenital Sialidosis Type 2
Abnormal EKG, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Polydactyly, Ascites... ORPHA:93400
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Single transverse... OMIM:247200
Branchio-Oculo-Facial Syndrome
Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature grayi... ORPHA:1297
Aortic Arch Interruption
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press... ORPHA:2299
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... OMIM:610829
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Neona... ORPHA:141127
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primar... ORPHA:438216
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Orthopnea, Congestive h... ORPHA:980
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial ... OMIM:263520
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Marshall-Smith Syndrome
Irregular dentition, Apnea, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Gl... OMIM:602535
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int... OMIM:259900
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... ORPHA:2636
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Vipoma
Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, Erythema, Dehydration,... ORPHA:97282
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat... ORPHA:159
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... OMIM:615512
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, High palate, Bradycardia OMIM:619272
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Nephronophthisis 15
Polydactyly OMIM:614845
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor, Dysphagia OMIM:207950
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Pericardia... ORPHA:555874
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Foot oligodactyly, Triphalangeal thumb, Broad hall... OMIM:154400
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Vasculitis, Erythema, Urticaria, Recurrent a... ORPHA:343
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Death in childh... OMIM:557000
Acromelic Frontonasal Dysplasia
Median cleft lip, Upper airway obstruction, Patellar hypoplasia, Wide mouth, Talipes equinovarus,... ORPHA:1827
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... OMIM:614099
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dehydration, Dysphagia, Hypertension, Agitation, Bradycardia, Hy... ORPHA:94093
Bartsocas-Papas Syndrome 1
Syndactyly, Anal stenosis, Short metacarpal, Hypoplastic scapulae, Micrognathia, Hypoplasia of th... OMIM:263650
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Short philtrum, Recurre... OMIM:616268
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, Raynaud phenom... ORPHA:3260
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary arterial hyper... ORPHA:2282
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Abnormal repetitive mannerisms, Agitation, Cerebral ischemia ORPHA:927
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:123500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Tricuspid Atresia
Cyanosis ORPHA:1209
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Velopharyngeal insufficiency, Non-midline cleft... ORPHA:199302
Doors Syndrome
Respiratory distress, Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downtur... ORPHA:79500
Renal Hypoplasia
Hypertension, Polydipsia, Dehydration ORPHA:93101
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... OMIM:305100
Pyruvate Carboxylase Deficiency
Anorexia, Tachypnea, Dehydration, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand ... ORPHA:3008
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia ORPHA:98805
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Generalized edema, Crackles, Facial edema, Myocarditis, Nonproductiv... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Postaxial polydactyly, Esophageal varix, Inflammation of the large intestine, H... OMIM:614576
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Multiple gastric polyps, Cardiomyopathy, Prolonged neonatal jaundice, Acroc... OMIM:225750
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial s... ORPHA:3404
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Poems Syndrome
Edema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Pericardial effus... ORPHA:2905
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Compulsive behaviors, Promi... OMIM:615873
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, ... ORPHA:268261
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand OMIM:122880
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m... ORPHA:306542
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Open bite, Abnormality of ... OMIM:115150
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... ORPHA:1461
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Preaxial ... ORPHA:261318
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... OMIM:618106
Congenital Enterovirus Infection
Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f... ORPHA:292
3Mc Syndrome 2
Prominence of the premaxilla, Limited elbow movement, Cleft upper lip, Hip dislocation, Cleft pal... OMIM:265050
Familial Atrial Fibrillation
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations ORPHA:334
Mend Syndrome
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Long fingers, 2-3 ... OMIM:300960
Dyskeratosis Congenita
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... ORPHA:1775
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Compulsive behavi... ORPHA:2044
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mou... ORPHA:1051
Stickler Syndrome
Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Micrognathia, Hypoplasia ... ORPHA:828
Rabson-Mendenhall Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... ORPHA:769
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Elbow flex... OMIM:619194
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of... OMIM:129900
Cranioectodermal Dysplasia 2
Polyhydramnios, Micrognathia, Hydrops fetalis, Ectodermal dysplasia, Fused teeth, High palate, Wi... OMIM:613610
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Overlapping toe, Systolic heart murmur, Generalized edema OMIM:617478
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, Metaphyseal chondrody... OMIM:260400
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard... OMIM:301022
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Congenital hip dislocation, Single transverse palmar crease... ORPHA:508488
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Velocardiofacial Syndrome
Abnormality of the hand, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard ... OMIM:192430
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate ORPHA:250999
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Neu-Laxova Syndrome
Abnormality of the philtrum, Micromelia, Micrognathia, Polyhydramnios, Trismus, Submucous cleft h... ORPHA:2671
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior, Genu valgum ORPHA:488627
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Edema, Myocarditis, Tachypnea, Ca... ORPHA:36234
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Aggressive behavior, Pyloric stenosis, Subm... ORPHA:457279
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, M... ORPHA:1790
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Nonproductive cough, Jaundice, H... ORPHA:99826
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Dysphagia, Corneal stromal edema, C... ORPHA:699
Lysosomal Acid Lipase Deficiency
Jaundice, Esophageal varix, Hypovolemia, Dehydration, Hypotension, Steatorrhea, Pulmonary arteria... ORPHA:275761
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Episodic Ataxia Type 1
Hand clenching, Respiratory distress ORPHA:37612
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Diamond-Blackfan Anemia 10
Respiratory distress, Malar flattening, Cleft palate, Micrognathia OMIM:613309
Joubert Syndrome 14
Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Intracranial hemorrhage, Hyperte... OMIM:614424
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Epidural hemorrhage, Polyhydramnios, Micr... OMIM:619472
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... OMIM:601707
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Hypotension, Dehydration ORPHA:90791
Desmosterolosis
Intestinal malrotation, Micromelia, Micrognathia, Metatarsus adductus, Submucous cleft hard palat... ORPHA:35107
Microsporidiosis
Sinusitis, Pneumonia, Anorexia, Myocarditis, Dehydration, Rhinitis, Glossitis ORPHA:2552
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Bifid tongue, Cleft pala... OMIM:616580
Farber Disease
Respiratory distress, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetal... ORPHA:333
Mgat2-Cdg
Respiratory distress, Dental crowding, Hydrops fetalis, Stereotypical hand wringing, Reflex asyst... ORPHA:79329
Diamond-Blackfan Anemia
Cleft soft palate, Nonimmune hydrops fetalis, Micrognathia, Absent thumb, Short thumb, Partial du... ORPHA:124
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... OMIM:261540
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Lymphedema, Submucous cleft hard palate, Genu valgum, Excessive wrin... ORPHA:1340
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... OMIM:616362
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Hip dysplasia ORPHA:531151
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... ORPHA:209905
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypertonic dehydration OMIM:304800
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Broad hallux, Dental crowding, H... OMIM:614188
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Asthma, ... ORPHA:293987
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Hy... ORPHA:90038
Vacterl/Vater Association
Finger syndactyly, Polyhydramnios, Preaxial hand polydactyly, Non-midline cleft lip, Tracheoesoph... ORPHA:887
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Hypovolemia, Polydipsia ORPHA:223
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia OMIM:601389
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggre... OMIM:300967
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Proximal Renal Tubular Acidosis
Malabsorption, Enamel hypomineralization, Hypovolemia, Dehydration, Polydipsia ORPHA:47159
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Polyhydramnios, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Polyhydramnios, Micrognathia, High palate, Compulsive behaviors, Aspiration, Abn... ORPHA:353277
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Anal stenosis, Bowing of the legs, Heart block, Preaxial hand polydactyly,... OMIM:617063
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... OMIM:619227
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Aortic regurgitation, Thin upper lip vermilion, Broad h... ORPHA:508498
Tolchin-Le Caignec Syndrome
Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Attention deficit hyperac... OMIM:618971
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Hyperactivity, Single transverse palmar crease, Micrognath... OMIM:223370
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Microgna... ORPHA:221120
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ... ORPHA:798
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... ORPHA:365
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Postaxial polydactyly, Oligohydramnios OMIM:615824
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Malabsorption, Intestina... ORPHA:537
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger ORPHA:2399
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda... ORPHA:959
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Mitral regurgitation, Talipes equinov... OMIM:614557
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... OMIM:252010
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus OMIM:617239
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li... OMIM:109400
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Zttk Syndrome
Aortic regurgitation, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ha... OMIM:617140
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Pericardial effusion, Myocarditis, Vascu... ORPHA:781
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Preaxial hand polydactyly, Clinodactyly of the 5th fi... ORPHA:96179
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... ORPHA:233
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Postaxial hand polydactyly ORPHA:2519
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna OMIM:276822
Joubert Syndrome 16
Polydactyly OMIM:614465
Degcags Syndrome
Polyhydramnios, Micrognathia, Oral-pharyngeal dysphagia, Premature graying of hair, High palate, ... OMIM:619488
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pyloric stenosis, Sub... ORPHA:2461
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Tooth malposition OMIM:268320
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Arachnodactyly, Micrognathia, High palate, Bradycardia, Emphysema, ... OMIM:614437
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ... ORPHA:480880
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Polydipsia, Hypovolemia, Dehydration ORPHA:411634
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Short femur, Pneumothorax, Talipes equinovarus, Sh... OMIM:620306
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Rocker bottom foot, Polyhydramnios, Micrognathi... OMIM:275210
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Gastrointestinal stroma t... ORPHA:221
Joubert Syndrome 37
High palate, Postaxial polydactyly OMIM:619185
Familial Renal Glucosuria
Dehydration ORPHA:69076
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Ablepharon Macrostomia Syndrome
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkle... ORPHA:920
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Orofacial cleft, Po... ORPHA:17
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Micrognathia, Rhizomelic leg shorte... ORPHA:397715
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Rectal prolapse, Shoulder dislocation, Ecchymosis, Ac... ORPHA:287
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifid uvula, Exa... ORPHA:352665
Vater/Vacterl Association
Syndactyly, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radius, Preaxial po... OMIM:192350
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Narrow palate, Downturned corner... OMIM:605627
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... ORPHA:416
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Anorexia, Elbow flexion contracture, Distal upper limb mus... ORPHA:79139
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... OMIM:302960
Hydrolethalus Syndrome 1
Median cleft lip, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:236680
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Orofacial cleft, Abnormal right ventricular function, Systolic heart murmur ORPHA:3427
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... OMIM:612731
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Stridor, Ma... ORPHA:505248
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange... OMIM:300166
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Palmar pits, Narrow... ORPHA:77301
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Jaundice, Ascites OMIM:617156
Stt3B-Cdg
Respiratory distress ORPHA:370924
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Short femur, Metaphyseal spurs, Polyhydramnios, Femoral bowing, Short long ... OMIM:618188
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Aggressive behavior, Nasal flaring, As... ORPHA:466943
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate, Cleft upper lip OMIM:615849
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... OMIM:194190
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Polydipsia, Dehydration ORPHA:18
Walker-Warburg Syndrome
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Congenital hip dislocation, Polyhydramnios, Posteriorly placed an... OMIM:306955
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Genu valgum, Dysphagia, Polydipsia OMIM:219800
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Camptodactyly of finger, Polyhydramnios, Micrognathia, Submucous cleft hard palate, Bifid uvula, ... ORPHA:3047
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Polyhydramnios, Swollen lip, Calcaneovalgus deformity, Neonatal death, ... OMIM:256520
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona... OMIM:274150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Miscarriage, Hypovolemia, Dehydration, Hypotension, Hypocapnia, Premature fusion of the ra... ORPHA:90794
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognat... ORPHA:83617
Meckel Syndrome, Type 1
Smooth philtrum, Natal tooth, Bowing of the long bones, Syndactyly, Thin upper lip vermilion, Int... OMIM:249000
Bartter Syndrome, Type 3
Hypotension, Dehydration OMIM:607364
Pyknoachondrogenesis
Sclerosis of skull base, Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly... ORPHA:3003
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Micrognathia, D... ORPHA:2556
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Volvulus, Tracheoesophageal ... ORPHA:210122
Infantile Nephropathic Cystinosis
Polydipsia, Dehydration ORPHA:411629
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty... ORPHA:564
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Arachnodactyly, Abnormality of the philtrum, Short hallux, Micrognathia,... ORPHA:280
Infantile Krabbe Disease
Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscle weakness, Respirator... ORPHA:206436
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Micrognathia, Cleft upper lip, Esophageal atresia, Abnormal pelvis bone ossification,... ORPHA:93271
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Submucous cleft hard palate, Aortic valve stenosis, Bifid uvula OMIM:617660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Arachnodactyly, Absent thumb, Hypoplasia of the maxilla, Cleft palate,... ORPHA:500150
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Hypovolemia, Dehydration ORPHA:99885
Primrose Syndrome
Hip contracture, Restlessness, Aggressive behavior, Hypoplasia of the maxilla, Metatarsus adductu... OMIM:259050
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Single transverse palmar crease, Oral-pharyngeal dysphagia, S... OMIM:615273
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Narrow greater sciatic notch, Short palm, Exaggerated medi... OMIM:312870
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypogeusia, Hypertension, Decreased sensitivity to hypoxemi... OMIM:223900
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Shortened QT interval, Hematemesis, Gingival fibromatosis... ORPHA:652
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Cleft upper lip... ORPHA:50
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Pallister-Hall Syndrome
Bifid uvula, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyly, Radial bowi... ORPHA:672
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Stomatitis OMIM:612852
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension, Dehydration ORPHA:168558
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Transient ischemic attack, Edema, Polyhydramnios, Pericardial eff... ORPHA:51608
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension, Dehydration ORPHA:289548
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Plague
Respiratory distress, Chapped lip, Tachycardia, Edema, Anorexia, Hematemesis, Abnormality of the ... ORPHA:707
Hardikar Syndrome
Cleft soft palate, Portal hypertension, Intestinal malrotation, Hematemesis, Celiac disease, Jaun... OMIM:301068
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261537
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Pyloric steno... ORPHA:464306
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Cough, Vasculitis, Abnormal long bone morphology, ... ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Wrist flexion contracture, Talipes equinovarus OMIM:618733
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstructi... ORPHA:99050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac... ORPHA:99646
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Self-mutilation, Bifid uvula, Oppos... OMIM:607872
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polydactyly, Partial ... OMIM:227646
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... OMIM:619539
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... ORPHA:31204
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely space... ORPHA:2152
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Wiedemann-Rautenstrauch Syndrome
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, 2-3 toe syndactyl... ORPHA:3455
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis ORPHA:268943
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... OMIM:180500
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Triangu... OMIM:618460
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia OMIM:619869
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... OMIM:301043
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe syndactyly, Preaxial foot poly... OMIM:619471
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Polyhydramnios, Low-to-normal blood pressure, Dehydration OMIM:241200
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr... ORPHA:261552
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Autoamputation of digits, Jaundice, Prolonged neonatal jaundice, Ascites OMIM:256810
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Reti... ORPHA:509
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition ORPHA:349
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... ORPHA:37042
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Tachypnea, Abnormal heart valve physiology, Pulmonic... ORPHA:3384
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micr... OMIM:610168
Coffin-Siris Syndrome 12
Micrognathia, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pal... OMIM:619325
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrop... OMIM:212093
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Salt craving, Raynaud phenomenon, Pericardial effusi... ORPHA:358
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla OMIM:614886
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... ORPHA:255210
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Congestive heart failure... ORPHA:533
Aicardi Syndrome
Prominence of the premaxilla, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Recurr... OMIM:304050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum OMIM:619321
Hypermobile Ehlers-Danlos Syndrome
Apnea, Abnormality of the wrist, Elbow dislocation, Malabsorption, Abnormality of the gingiva, Ab... ORPHA:285
Bartter Syndrome Type 4
Hypertension, Polyhydramnios, Dehydration ORPHA:89938
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema ORPHA:1546
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Joubert Syndrome 39
Hypopnea, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Raynaud phenomenon, ... ORPHA:48435
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Postaxial polydactyly OMIM:603387
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Low-to-normal blood pressure, Dehydration OMIM:601678
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno... OMIM:107480
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Exertional dyspnea... OMIM:233450
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Broad thumb ORPHA:2211
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Isolated Arrhinia
Respiratory distress, Hypoplasia of the nasal bone ORPHA:1134
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Malrotation of colon,... OMIM:113620
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly OMIM:219730
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... ORPHA:2729
Scimitar Syndrome
Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Pneumothorax, C... ORPHA:185
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Attention deficit hyperactivity disorder, Submucous cleft hard palate, Compulsive behaviors OMIM:618891
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Neonatal death, Syndactyly, Tricuspid regurgitation, Portal hypertension, ... OMIM:619534
Pmm2-Cdg
Mandibular prognathia, Respiratory distress, Pericarditis, Thin upper lip vermilion, Angina pecto... ORPHA:79318
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia ORPHA:1764
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Restrictive Dermopathy
Natal tooth, Camptodactyly of finger, Polyhydramnios, Micrognathia, Submucous cleft hard palate, ... ORPHA:1662
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of thumb phalanx, C... OMIM:164210
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger... ORPHA:457284
Legius Syndrome
Hyperactivity, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosi... ORPHA:137605
Townes-Brocks Syndrome
Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... ORPHA:857
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... OMIM:614748
Aicardi-Goutières Syndrome
Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic cardiomyopathy, Ac... ORPHA:51
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intestinal malrotation, Pulmonic stenosis, Oligohydramnios ORPHA:2255
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... OMIM:235730
Alström Syndrome
Respiratory distress, Abnormality of dental color, Dorsocervical fat pad, Portal hypertension, Co... ORPHA:64
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Hypotension, Median cleft lip and palate ORPHA:95494
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622

Histopathology

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

There is no histopathology data for Kcnj2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcnj2.

No publications found that use IMPC mice or data for Kcnj2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Kcnj2tm232199(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kcnj2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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