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Gene: Nubp1 MGI:1347073

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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:
nucleotide binding protein 1
Synonyms:
N/A

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 Nubp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nubp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hi... ORPHA:294975
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes... ORPHA:2631
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, Fl... OMIM:617194
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater scia... OMIM:256050
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Talipes equinovarus, Pulmonary hypopl... OMIM:616531
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Pulmonary hypoplasia OMIM:613124
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Achondrogenesis Type 2
Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Cardior... ORPHA:93296
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Death in... OMIM:184260
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly OMIM:600384
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Pulmonary hypoplasia OMIM:601163
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Elbow flexion contracture, Still... OMIM:617468
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Pulmonary ... OMIM:236500
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Cataract, Micromelia, Respiratory insufficiency, Short long bone, Talip... OMIM:224410
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Aplasia/Hypopl... ORPHA:474
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia... OMIM:617895
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Pulmonary ... OMIM:251230
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterior chamber morp... ORPHA:93323
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postax... OMIM:241800
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Bilateral single transverse palmar creases ORPHA:3033
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... ORPHA:2257
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
X-Linked Intellectual Disability, Stocco Dos Santos Type
Recurrent respiratory infections, Cataract, Talipes equinovarus, Congenital bilateral hip disloca... ORPHA:85288
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly, Cataract OMIM:183800
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Cataract, Micromelia, Elbow dislocatio... ORPHA:3258
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplast... OMIM:151210
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Bilateral talipes equinovarus, Pulmonary hypoplasia OMIM:618174
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl... OMIM:187600
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pubi... ORPHA:1865
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Arachnodactyly, Bilateral sing... ORPHA:1548
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien... OMIM:313420
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Summitt Syndrome
Syndactyly OMIM:272350
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Respiratory insufficiency due to muscle weak... OMIM:611890
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Respiratory insufficiency, Hip dysplasia, Pulmo... ORPHA:2655
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Hyperekplexia 4
Respiratory failure, Adducted thumb, Talipes equinovarus, Camptodactyly OMIM:618011
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Multiple pterygia OMIM:601809
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... OMIM:201170
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Hypoplasia of the capital femoral epiphysis OMIM:600561
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly... ORPHA:521308
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Atelosteogenesis Type Ii
Micromelia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of... ORPHA:56304
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow ORPHA:3268
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb OMIM:619334
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... ORPHA:3104
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Achondroplasia
Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bo... OMIM:100800
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris coloboma, Brac... OMIM:610023
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Pulmona... OMIM:615503
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Elbow... OMIM:618414
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h... ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormal fibula morphology, Tibial bowing, Pulmonary hyp... ORPHA:3035
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Split... ORPHA:2437
Metatropic Dysplasia
Cataract, Camptodactyly of finger, Micromelia, Aplasia/Hypoplasia of the lungs, Halberd-shaped pe... ORPHA:2635
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormal limb bone morphology ORPHA:2204
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormality of the elbow, Pulmonary hypoplasia, Abnormal hip bone morphology ORPHA:1486
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Dyspnea, Respi... ORPHA:2759
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Tonne-Kalscheuer Syndrome
Broad thumb, Pulmonary hypoplasia, Blue irides, Brachydactyly OMIM:300978
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... ORPHA:1307
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Sandal gap, Respiratory insufficiency ORPHA:1046
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
2Q24 Microdeletion Syndrome
Central apnea, Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped dis... ORPHA:1617
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... ORPHA:1692
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Hypoplasia of the ulna, Death in infancy, Early ossification of... OMIM:208500
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Respiratory insufficiency, Pulmonary hypoplasia, Pterygium, Absent palma... ORPHA:994
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Pulmonary hypoplasia, Cataract ORPHA:79321
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Preaxial hand polydactyly, Respiratory infections in ... ORPHA:96179
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly OMIM:300484
Stuve-Wiedemann Syndrome 1
Apnea, Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx... OMIM:601559
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Hip dislocation, Elbow flexion contracture, Respiratory failure, Increased laxity of fi... ORPHA:75840
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Pulmonary hypoplasia... OMIM:314390
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Metaphyseal widening, Abnormal lung lobation, Short long bone, Narro... OMIM:263210
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Recurrent respiratory infections, Short foot, Oligodactyly OMIM:619758
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Cataract, Abnormal pleura morphology ORPHA:2571
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Cataract, Small hand OMIM:300261
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Recurrent respiratory infections, Overlapping toe, Long fingers, Cutaneous syndactyly, ... OMIM:618316
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia, Adducted thumb ORPHA:171430
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Aplasia/Hypoplasia of the lungs,... ORPHA:3429
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Shoulder girdle muscle weakness OMIM:604801
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... ORPHA:370010
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Femoral bowing, Stillbirth, Talipes equinovarus, Pulmonary hypoplasia OMIM:615415
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Abnormal lung lobati... ORPHA:958
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Micromelia OMIM:273680
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormality of the ... OMIM:135100
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c... ORPHA:60025
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short hallux, Long finge... ORPHA:3309
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Decreased fibular diameter, Flared metaphysis, Pulmonary hypoplasi... OMIM:616897
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Amelia involving the upper limbs, Acromelia of the lower limbs ORPHA:1027
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... OMIM:618291
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth... OMIM:619879
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ... ORPHA:166024
Atelosteogenesis Type I
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... ORPHA:1190
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Abnormal ... ORPHA:65759
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Congenital Myopathy 17
Overlapping toe, Tapered finger, Respiratory tract infection, Respiratory insufficiency, Pulmonar... OMIM:618975
Hypomelanosis Of Ito
Syndactyly, Cataract, Hand polydactyly, Radial deviation of finger, Clinodactyly, Iris coloboma OMIM:300337
Radio-Renal Syndrome
Respiratory distress, Micromelia, Dyspnea, Hypoplasia of the radius, Abnormality of the elbow, Re... ORPHA:3015
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Short finger, Multiple pterygia OMIM:312150
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... ORPHA:2538
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Abnormality iris morphology, Pulmonary hypoplasia ORPHA:250999
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Cataract, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elb... ORPHA:90652
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure ORPHA:168486
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Aplasia/Hypoplasia of the lungs, Brachydactyly ORPHA:2145
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Cataract, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Abn... OMIM:200600
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short... OMIM:620306
Renal Hypodysplasia/Aplasia 1
Talipes equinovarus, Pulmonary hypoplasia OMIM:191830
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Short finger, Multiple pterygia OMIM:253290
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Pulmonary hypoplasia, Short distal p... ORPHA:86822
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Narrow pelvis bone, Hammertoe, Talipes equinovar... OMIM:608022
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat acetabular roo... OMIM:616300
Genitopatellar Syndrome
Hip contracture, Apnea, Hypoplastic ilia, Patellar aplasia, Radioulnar synostosis, Pulmonary hypo... ORPHA:85201
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Limited elbow extension, Short metatarsal, Flatte... ORPHA:1856
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr... OMIM:606071
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Peroxisome Biogenesis Disorder 11B
Respiratory tract infection, Cataract OMIM:614885
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f... OMIM:617809
Neuropathy, Congenital Hypomyelinating, 3
2-3 toe syndactyly, Respiratory insufficiency, Respiratory failure, Bilateral talipes equinovarus... OMIM:618186
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... OMIM:616037
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Hip dislocation, Respiratory insufficiency ORPHA:370968
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Broad palm, Respiratory insuffi... OMIM:269860
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Kagami-Ogata Syndrome
Coxa valga, Long fingers, Pulmonary hypoplasia, Limb undergrowth, Pulmonary arterial hypertension OMIM:608149
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly ORPHA:1406
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Weakness of the intrinsic hand muscles, Weakness of long finge... ORPHA:98913
Greenberg Dysplasia
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... OMIM:215140
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Neonatal respiratory distress, Arachnodactyly, Rocker bottom foot, Down-sloping shoul... OMIM:265000
Axial Spondylometaphyseal Dysplasia
Neonatal respiratory distress, Cataract, Iliac crest serration, Respiratory tract infection, Prox... ORPHA:168549
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... ORPHA:3210
Sandestig-Stefanova Syndrome
Rocker bottom foot, Developmental cataract, Respiratory failure, Camptodactyly, Clinodactyly, Bil... OMIM:618804
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Ulnar deviation of the hand, Cataract, Single transverse palmar cr... OMIM:214100
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Bilobed right lung, Postaxial foot polydactyly, Pulmonary hypoplasia,... OMIM:612284
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Microcornea, Arachnodactyly, Repeated pneumothoraces,... ORPHA:536467
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... ORPHA:166011
Bardet-Biedl Syndrome 9
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty... OMIM:615986
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death, Developmental cataract OMIM:231680
Harlequin Ichthyosis
Recurrent respiratory infections, Cataract, Respiratory insufficiency, Hand polydactyly, Foot pol... ORPHA:457
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Neonatal respiratory distress, 2-3 toe syndactyly, Aortopulmonary window, Pulm... OMIM:620025
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... ORPHA:2251
Spondylodysplastic Ehlers-Danlos Syndrome
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Megalocornea, ... ORPHA:536471
Lethal Congenital Contracture Syndrome 10
Femoral bowing, Short long bone, Talipes equinovarus, Pulmonary hypoplasia, Overlapping fingers, ... OMIM:617022
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
Marden-Walker Syndrome
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, ... OMIM:248700
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Cataract, Aplastic clavicle, Flared metap... ORPHA:50945
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger, Abnormal pleura morphology, Adducted thumb ORPHA:2570
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cutaneous syndacty... OMIM:619148
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Martsolf Syndrome 2
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly OMIM:619420
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Pulmonary lymphangiectasia, Restrictive ventilatory defect, Increased carrying angle, B... OMIM:247410
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ab... ORPHA:896
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Abnormal lung morphology, Pulmonary hyp... ORPHA:1708
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Sandal gap, Pulmonary hypoplasia, 3-4 finger cutaneous syndactyly OMIM:612530
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Multiple pterygia, Ant... ORPHA:2990
Laurence-Moon Syndrome
Finger syndactyly, Cataract, Bilateral single transverse palmar creases, Hand polydactyly, Iris c... ORPHA:2377
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Lethal Congenital Contracture Syndrome 9
Ulnar deviation of the hand, Antecubital pterygium, Cardiorespiratory arrest, Talipes equinovarus... OMIM:616503
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure ORPHA:609
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... ORPHA:392
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Abnormal femur morphology, Abnormal fibula morphology, Upper limb asymmet... ORPHA:2063
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... ORPHA:2557
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Respiratory failure, Shoulder girdle muscle weakness, N... OMIM:603689
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... OMIM:609638
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the radiu... OMIM:200980
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Short foot, Micromelia, Short palm ORPHA:93299
Thanatophoric Dysplasia Type 2
Micromelia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal metaphysis morph... ORPHA:93274
Tarp Syndrome
Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... ORPHA:2886
Teebi Hypertelorism Syndrome 1
Broad palm, Small hand, Pulmonary hypoplasia OMIM:145420
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor... OMIM:604320
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Short foot, Talipes equinovarus, Micromelia ORPHA:93298
Distal Triplication 15Q
Corneal dystrophy, Arachnodactyly, Pulmonary hypoplasia, Camptodactyly ORPHA:314588
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Cataract ORPHA:64754
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pulmonary lymphangiectasia, Camptodactyly OMIM:616006
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia, Tapered finger, Short finger ORPHA:1867
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure ORPHA:1861
Caudal Regression Syndrome
Talipes equinovarus, Abnormal pelvic girdle bone morphology, Abnormal iliac wing morphology, Pulm... ORPHA:3027
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... OMIM:602418
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Sandal gap, Congenital lobar overinflation, 2-3 toe syndactyly, C... OMIM:600987
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Cataract, Pulmonary fibrosis OMIM:615704
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly ORPHA:1114
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Pentalogy Of Cantrell
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia ORPHA:1335
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Bilateral talipes equinovarus, Pulmonary hypoplasia, Over... OMIM:619708
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral... OMIM:601186
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morpholo... OMIM:157900
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Microcornea, ... ORPHA:2712
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... OMIM:236700
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Cataract, Long fing... OMIM:256520
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb ORPHA:1825
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Lethal Acantholytic Erosive Disorder
4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of the 5th finger... ORPHA:158687
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Micromelia OMIM:200995
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contractur... OMIM:620369
Joubert Syndrome 33
Syndactyly, Apnea OMIM:617767
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Arterial Tortuosity Syndrome
Keratoconus, Respiratory distress, Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Ava... ORPHA:3342
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Sandal gap, Single transverse palmar crease, Atelectasis, Recurrent pneumonia, ... OMIM:613177
Tetraploidy
Aplasia/Hypoplasia of the lungs, Radial club hand ORPHA:3305
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood, Joi... OMIM:620278
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Micromelia ORPHA:932
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... ORPHA:363417
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Cataract, Tapered toe, Apnea, Tapered ... OMIM:608836
Monosomy 5P
Finger syndactyly, Small hand ORPHA:281
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... OMIM:617925
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ... ORPHA:98905
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... OMIM:600325
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Raine Syndrome
Death in infancy, Bowing of the long bones, Micromelia, Pulmonary hypoplasia, Neonatal death, Lon... OMIM:259775
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Laryngotracheomalacia, Episod... ORPHA:1199
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Meacham Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... OMIM:608978
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Apnea, Hip dislocation, Elbow flexion contracture, Respiratory ... OMIM:617301
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... OMIM:609945
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Respiratory failure OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Shoulder girdle muscle weakness OMIM:606612
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... ORPHA:672
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Cataract ORPHA:445038
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Camptodactyly of finger ORPHA:1194
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, Microcornea, Respiratory failure ORPHA:2707
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Respiratory failu... OMIM:616482
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epi... ORPHA:96334
Weill-Marchesani Syndrome
Short thumb, Ectopia lentis, Cataract, Brachydactyly ORPHA:3449
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Preaxial hand polyd... OMIM:617063
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs, Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarp... ORPHA:2167
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, ... ORPHA:217346
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... ORPHA:1788
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, 3-4 finger cutaneous syndactyly, C... ORPHA:69085
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Tapered finger OMIM:616505
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Pulmonary hypoplasia OMIM:616546
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Cataract, Rhizomelia, Proximal placement of thumb, Sclerocornea, Postaxial han... ORPHA:818
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death OMIM:608013
Fryns Syndrome
Clinodactyly of the 5th finger, Corneal opacity, Pulmonary hypoplasia, Short distal phalanx of fi... ORPHA:2059
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Pulmonary artery hypoplasia, ... OMIM:300963
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Weaver Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma... ORPHA:3447
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth OMIM:263630
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, St... OMIM:229850
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Death in infancy OMIM:226700
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Alkuraya-Kucinskas Syndrome
Cataract, Overlapping toe, Cutaneous syndactyly, Pleural effusion, Talipes equinovarus, Camptodac... OMIM:617822
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Humeroradial synostosis, Pneumothorax, Hyp... ORPHA:3404
Renal Agenesis
Talipes equinovarus, Pulmonary hypoplasia ORPHA:411709
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cutaneous syndactyly OMIM:601005
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac... OMIM:619451
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Trip... ORPHA:2549
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... OMIM:304120
Tetraamelia-Multiple Malformations Syndrome
Cataract, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia involving t... ORPHA:3301
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... OMIM:619351
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Neu-Laxova Syndrome
Cataract, Micromelia, Large hands, Pulmonary hypoplasia, Pterygium ORPHA:2671
Vacterl With Hydrocephalus
Microcornea, Hypoplasia of the radius, Hip dislocation, Pulmonary hypoplasia ORPHA:3412
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Cataract, Absent toe, Split hand, Absent hand, Abnormality of t... ORPHA:974
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Sirenomelia ORPHA:1848
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Postaxial foot polydactyl... ORPHA:139471
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Cataract, Corneal erosion, Interstitial pneumonitis, Bronchio... OMIM:614878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Hypercapnia, Respi... ORPHA:2020
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ... OMIM:613684
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... OMIM:613573
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha... ORPHA:2994
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly... ORPHA:2273
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Corneal dystrophy, Cataract, Pulmonary fibrosis ORPHA:1839
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited... OMIM:218600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Restrictive ventilator... OMIM:614376
Alg9-Cdg
Ulnar deviation of the hand, Rhizomelia, Asthma, Abnormal lung lobation, Flared metaphysis, Broad... ORPHA:79328
Distal Deletion 15Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Small hand, Hip dislocation, Genu ... ORPHA:1596
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Single transverse palmar crease, Tapered finger, Pulmonary artery stenosis, Ca... ORPHA:435938
Kniest Dysplasia
Respiratory distress, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed e... OMIM:156550
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... ORPHA:980
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Wrist ... OMIM:208150
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Clinodactyly, Arachnodactyly OMIM:619092
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Arachnodactyly, Lens subluxation, Microphakia ORPHA:171844
Smith-Lemli-Opitz Syndrome
Death in infancy, Cataract, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus ... OMIM:270400
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Corneal opacity, Abnormal palmar dermatoglyphics, Camptodactyl... ORPHA:2092
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxia... ORPHA:2753
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Cataract, Pulmonary hypoplasia, Hypoplastic pelvis OMIM:273395
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Neonatal respiratory distress, Single transverse palmar c... OMIM:615777
Cornelia De Lange Syndrome
Toe syndactyly, Cataract, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, E... ORPHA:199
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Malignant Atrophic Papulosis
Pleural effusion, Cataract, Respiratory failure ORPHA:679
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Pulmonary hypoplasia, Short distal phalanx of finger OMIM:614080
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Fraser Syndrome 3
Short toe, Stillbirth, Abnormal lung lobation, Cutaneous syndactyly OMIM:617667
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Filippi Syndrome
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly OMIM:272440
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly ORPHA:251046
20P13 Microdeletion Syndrome
Finger syndactyly, Microcornea, Polydactyly, Clinodactyly, Brachydactyly ORPHA:313781
Ring Chromosome 21 Syndrome
Syndactyly, Clinodactyly, Small hand, Narrow palm ORPHA:1445
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h... OMIM:249000
Constricting Bands, Congenital
Syndactyly, Hand polydactyly, Abnormal lung lobation, Talipes equinovarus OMIM:217100
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Fractures of the ... ORPHA:496641
Aarskog-Scott Syndrome
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa... ORPHA:915
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Respiratory failure, Camptodactyly, F... ORPHA:254528
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f... OMIM:252100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly OMIM:602501
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... ORPHA:3384
Alg1-Cdg
Respiratory failure ORPHA:79327
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial han... ORPHA:93271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... ORPHA:2256
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Dpagt1-Cdg
Arachnodactyly, Developmental cataract, Astigmatism, Pulmonary hypoplasia, Camptodactyly, Clinoda... ORPHA:86309
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Emphy... ORPHA:31204
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Myhre Syndrome
Cataract, Overlapping toe, Short toe, 2-3 toe syndactyly, Respiratory insufficiency, Cone-shaped ... OMIM:139210
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Congenital hip dislocation, Ta... ORPHA:2970
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Osteogenesis Imperfecta
Bowing of the long bones, Neonatal respiratory distress, Rhizomelia, Protrusio acetabuli, Microme... ORPHA:666
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Fontaine Progeroid Syndrome
Syndactyly, Death in infancy, Pneumothorax, Respiratory insufficiency, Deep palmar crease, Absent... OMIM:612289
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Respiratory insufficiency, Abnormal epiphysis morpholo... ORPHA:503
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Cataract, Calcane... ORPHA:79345
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Corneal opacity, Absent thumb, Aplasia/Hypoplasia of the dista... ORPHA:1234
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Recurrent pneumonia, Deviati... ORPHA:464738
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Asthma, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th finger ORPHA:397590
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory ... ORPHA:26791
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Astigmatism, T... OMIM:619762
Boutonneuse Fever
Abnormal skin morphology of the palm, Respiratory failure ORPHA:83313
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Cata... OMIM:607323
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Cataract, Single transverse palmar crease, Metatarsus adductus, Sho... OMIM:123450
Ogden Syndrome
Congenital hip dislocation, Sandal gap, Broad hallux, Apnea, Metatarsus valgus, Long fingers, Pul... OMIM:300855
Nail-Patella Syndrome
Keratoconus, Biceps aplasia, Cataract, Glenoid fossa hypoplasia, Triceps aplasia, Patellar aplasi... OMIM:161200
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Syndactyly, Small hand, Antecubital pterygium OMIM:616489
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Aspiration pneumonia OMIM:616430
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... ORPHA:783
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Equinus calcaneus ORPHA:746
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, A... ORPHA:79404
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Respiratory failure, Stillbirth, Hip subluxation, Mydriasis OMIM:259720
Restrictive Dermopathy 1
Rocker bottom foot, Overtubulated long bones, Stillbirth, Osteolytic defects of the distal phalan... OMIM:275210
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly ORPHA:261272
Schinzel-Giedion Syndrome
Respiratory distress, Overlapping toe, Recurrent pneumonia, Hypoplastic pubic bone, Tibial bowing... ORPHA:798
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Cataract, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Large... ORPHA:2636
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Overlapping toe, Single transverse palmar crease, Arachnodactyly, Contractu... ORPHA:83617
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp... ORPHA:570
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Cataract OMIM:620327
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Camptodactyly, Ocular anterior segment dysgenesis, Clinodactyly ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Respiratory failure, Cataract OMIM:616538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Cataract, Sandal gap, Broad hallux, Ectopia pupillae, Astigmatism, Clinodactyly, 3... OMIM:618727
Acrofrontofacionasal Dysostosis 2
Syndactyly, Hand polydactyly, Broad hallux, Broad thumb OMIM:239710
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Pneumonia, Micromelia, Proximal placement of thumb, Hypoplasia o... OMIM:122470
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Mesomelia, Pulmonary artery atresia ORPHA:1908
3C Syndrome
Recurrent respiratory infections, Finger syndactyly, Death in infancy, Hand polydactyly, Abnormal... ORPHA:7
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... OMIM:305400
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Long Qt Syndrome 8
Syndactyly OMIM:618447
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... OMIM:217980
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... OMIM:180860
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Respiratory insufficiency, Camptodactyly of finger, Anomalous pulmonary venous... ORPHA:2311
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Talipes equinovarus, Shor... OMIM:615789
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... ORPHA:991
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Corneal opacity, Aplasia/Hypoplasia of the phalanges of the hand... OMIM:219000
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Ellis Van Creveld Syndrome
Micromelia, Capitate-hamate fusion, Genu valgum, Aplasia/Hypoplasia of the lungs, Abnormal pelvic... ORPHA:289
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Prader-Willi Syndrome
Recurrent respiratory infections, Syndactyly, Hypoventilation, Acromicria, Small hand, Narrow pal... OMIM:176270
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly ORPHA:1514
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Limbal dermoid, Abnormal pelvic girdle bone morphology ORPHA:1834
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology ORPHA:3224
Fraser Syndrome
Finger syndactyly, Death in infancy, Toe syndactyly, Abnormal lung lobation, Pulmonary hypoplasia... ORPHA:2052
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Tracheomalacia, Small hand, S... ORPHA:1001
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxial ha... ORPHA:887
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ... ORPHA:1647
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa... ORPHA:125
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness ORPHA:206436
Cardiac-Urogenital Syndrome
Tracheomalacia, Partial anomalous pulmonary venous return, 2-3 toe syndactyly, Pulmonary hypoplas... OMIM:618280
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly OMIM:618087
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... ORPHA:3103
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Bardet-Biedl Syndrome 1
Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Asthma, Postaxial foot p... OMIM:209900
Blepharocheilodontic Syndrome 1
Clinodactyly, Cutaneous syndactyly OMIM:119580
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, Anterior syne... OMIM:601552
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, Dyspnea, Pat... ORPHA:2554
Aniridia-Absent Patella Syndrome
Aniridia, Cataract, Aplasia/Hypoplasia of the patella ORPHA:1069
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Abnormal met... ORPHA:284160
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, R... OMIM:606170
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Central Y-shaped metacarpal, Preaxi... ORPHA:2754
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm ORPHA:73246
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Keratoconjunctivitis, Opacification of the corneal stro... OMIM:158310
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Cataract, Camptodactyly of finger, Short hallux, Aplasia/Hypop... ORPHA:2710
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly OMIM:614800
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Bohring-Opitz Syndrome
Syndactyly, Neonatal respiratory distress, Overlapping toe, Ulnar deviation of the wrist, Tapered... OMIM:605039
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Camptodactyly of finger, Spli... ORPHA:2008
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Adactyly, Split hand, Aplasia/Hypoplasia of f... ORPHA:989
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... ORPHA:93357
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... OMIM:614701
Microphthalmia, Lenz Type
Finger syndactyly, Cataract, Camptodactyly of finger, Abnormal shoulder morphology, Microcornea, ... ORPHA:568
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius ORPHA:246
Pili Torti-Onychodysplasia Syndrome
Conjunctival hyperemia, Palmoplantar keratoderma, Cutaneous syndactyly ORPHA:2890
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly ORPHA:2332
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... ORPHA:731
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, 3-4 finger... OMIM:615877
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Talipes equinovarus, Pulmonary hypoplasia, Small toe, Clinodact... ORPHA:3310
Microphthalmia, Syndromic 1
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcornea, Pulmonary hypop... OMIM:309800
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Iris coloboma ORPHA:66629
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... ORPHA:3255
Leiomyomatosis, Diffuse, With Alport Syndrome
Tracheobronchial leiomyomatosis, Cataract, Dyspnea, Anterior lenticonus, Lenticonus OMIM:308940
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis,... ORPHA:3253
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... ORPHA:1005
Bloom Syndrome
Syndactyly, Recurrent upper respiratory tract infections, Bronchiectasis, Hand polydactyly, Clino... OMIM:210900
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ... ORPHA:1512
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly ORPHA:60040
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cataract, Sclerocornea, Camptodactyly, Absent palmar crease OMIM:614230
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones ORPHA:1323
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Penile Agenesis
Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypoplasia ORPHA:49
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Pneumothorax, Respiratory insuff... OMIM:218040
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Leigh Syndrome
Respiratory failure, Cataract, Abnormal pattern of respiration ORPHA:506
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly OMIM:601357
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Fraser Syndrome 2
Respiratory failure, Cutaneous syndactyly OMIM:617666
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... ORPHA:1225
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Cataract OMIM:616038
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Finger syndactyly, Broad hallux phalanx, Bilateral single trans... ORPHA:1507
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Mesomelia, Pulmonary artery atresia, Clinodactyly, Short phalanx of finger, Broad thu... OMIM:616894
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis ORPHA:533
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... OMIM:101200
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Bilater... ORPHA:1786
Jacobsen Syndrome
Recurrent respiratory infections, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Catara... ORPHA:2308
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... ORPHA:193
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ... ORPHA:87
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Adams-Oliver Syndrome 5
Syndactyly, Pulmonary arterial hypertension, Brachydactyly OMIM:616028
Triploidy
Finger syndactyly, Cataract, Iris coloboma ORPHA:3376
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Neck pterygia, Hip dy... OMIM:611174
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Deep palmar crease, Toe clinodactyly, Clinodactyly of ... ORPHA:254346
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Apnea, Short tibia, Adactyly, Broad first metatarsal, Postaxial ... ORPHA:2751
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... OMIM:154400
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Hand oligodactyly, Cataract ORPHA:45358
Ritscher-Schinzel Syndrome 1
Syndactyly OMIM:220210
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Scleroco... ORPHA:280
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Small hand, Short 4th metacarpal ORPHA:1787
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Abetalipoproteinemia
Keratoconjunctivitis sicca, Corneal ulceration, Talipes equinovarus, Respiratory failure ORPHA:14
Methylcobalamin Deficiency Type Cble
Syndactyly, Clinodactyly ORPHA:2169
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,... ORPHA:67036
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Stridor, Tal... OMIM:620029
Pallister-Killian Syndrome
Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Cataract, Mesomelic/rhiz... OMIM:601803
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Upper airway ob... OMIM:603671
X Small Rings
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... ORPHA:96201
Ring Chromosome 12 Syndrome
Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb ORPHA:1439
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger ORPHA:178303
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx ORPHA:59315
Focal Dermal Hypoplasia
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Ectopia lentis, Postaxial hand poly... OMIM:305600
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Abnor... ORPHA:3472
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Broad palm OMIM:618505
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory failure, Respiratory distress, Pulmonary lymphangiomyoma... ORPHA:805
Opitz-Kaveggia Syndrome
Syndactyly, Broad hallux, Single transverse palmar crease, Split hand, Radial deviation of finger... OMIM:305450
Rubinstein-Taybi Syndrome 1
Respiratory distress, Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingerti... OMIM:180849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Elbow flexion contracture, Broad palm, Respiratory failure OMIM:300868
Restrictive Dermopathy
Camptodactyly of finger, Pulmonary hypoplasia ORPHA:1662
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Increased corneal thickness, Duplication of thumb ... ORPHA:2363
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Abnormal metaphysis morphology... ORPHA:1517
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... OMIM:263750
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t... ORPHA:794
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Arachnodactyly, Absent thumb, Slender long bone, Respiratory failure, E... ORPHA:500150
Cerebrofacioarticular Syndrome
Syndactyly, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage ORPHA:314679
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Corneal opacity, Cataract, Aplasia of the ulna... OMIM:268300
Incontinentia Pigmenti
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Keratitis, Abnormal hand m... ORPHA:464
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, Aspiration, Clinoda... ORPHA:96182
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Short metatarsal, Palm... OMIM:216340
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Clinodactyly of the 5th finger, Iri... ORPHA:1587
Bardet-Biedl Syndrome
Finger syndactyly, Postaxial hand polydactyly ORPHA:110
Kbg Syndrome
Syndactyly, Single transverse palmar crease, Cutaneous syndactyly, Radial deviation of finger, Sh... OMIM:148050
Holoprosencephaly
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Hand polydactyly, Iris coloboma, Brac... ORPHA:2162
Hennekam Syndrome
Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Pulmonary lymphangi... ORPHA:2136
Meacham Syndrome
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... ORPHA:3097
Proteus Syndrome
Hallux valgus, Finger syndactyly, Central heterochromia, Cataract, Macrodactyly, Metatarsus valgu... ORPHA:744
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... ORPHA:2911
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... ORPHA:1896
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... OMIM:151050
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Corneal opacity, Sclerocornea, Dyspnea, Respiratory failure, Posterior embr... ORPHA:2556
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Spontaneous pneumothorax, Protrusio acetabuli, Postaxial polydactyly,... OMIM:610168
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Syndactyly, Cataract, Broad hallux, Pneumonia, Deviation of the... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Syndactyly, Cataract, Broad hallux, Pneumonia, Deviation of the... ORPHA:353277
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C... OMIM:227330
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Cataract, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Developmental c... OMIM:181270
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Congenital hip dislocation OMIM:104350
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... OMIM:200990
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Short foot, Short palm, Clinodactyly of the 5th finger, Short ... ORPHA:264200
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo... ORPHA:261318
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Syndactyly, Scapular winging, Short metacarpal, Single transver... OMIM:150230
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Recurrent pneumonia, Polydactyly, Mesomelia, ... OMIM:613610
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Cataract, Abnormal morphology of ulna,... ORPHA:84
Dubowitz Syndrome
Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing... OMIM:223370
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma OMIM:129400
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Leukocoria, Abnormality of the upper limb, Short lower limbs ORPHA:1556
Neurocardiofaciodigital Syndrome
Syndactyly, Cataract, Polydactyly, Sclerocornea OMIM:619869
Doors Syndrome
Respiratory distress, Cataract, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe ... ORPHA:79500
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... ORPHA:2750
Degcags Syndrome
Syndactyly, Chronic lung disease, Toe syndactyly, Pneumonia, Short thumb, Preaxial hand polydacty... OMIM:619488
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Ab... ORPHA:2907
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,... ORPHA:2658
Orofaciodigital Syndrome I
Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:311200
Craniofacial Microsomia 1
Limbal dermoid, Partial duplication of thumb phalanx, Pulmonary hypoplasia, Genu valgum OMIM:164210
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb ORPHA:2211
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1974
Monosomy 22
Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Single transverse palmar crease ORPHA:96123
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... ORPHA:3107
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature ORPHA:1521
Peters-Plus Syndrome
Syndactyly, Short metacarpal, Cataract, Rhizomelia, Single transverse palmar crease, Limited elbo... OMIM:261540
Charge Syndrome
Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Absent... OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Peters anomaly OMIM:616975
Kindler Epidermolysis Bullosa
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Palmoplantar keratoderma, Conjunctiv... ORPHA:2908
Robinow Syndrome
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... ORPHA:97360
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Long fingers, Asthma, Recurrent pneumonia, Cutaneous syndactyly, Toe clinodactyly, Re... OMIM:620330
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Abnormality of the pulmonary ar... ORPHA:261552
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Syndactyly, Postaxial polydactyly, Asthma, Broad first metatars... OMIM:619534
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pulmonary artery ... ORPHA:261537
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna... OMIM:192350
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Astigmatism OMIM:618820
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma ORPHA:1071
Hartsfield Syndrome
Syndactyly, Ectrodactyly OMIM:615465
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly ORPHA:1519
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pulmonary artery ... ORPHA:2152
Coffin-Siris Syndrome 12
Short thumb, Slender finger, Cutaneous syndactyly, Radioulnar synostosis, Broad thumb, Hip sublux... OMIM:619325

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 Nubp1

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 Nubp1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nubp1 is required for lung branching morphogenesis and distal progenitor cell survival in mice. PloS one (September 2012) Nubp1tm1a(EUCOMM)Wtsi PMC3444492

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nubp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nubp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nubp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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