Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ArfGAP with SH3 domain, ankyrin repeat and PH domain1
Synonyms:
Ddef1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Legacy Phenotype Associated Images

View all 25 images

Human diseases caused by Asap1 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 Asap1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Sle... ORPHA:50811
Multiple Epiphyseal Dysplasia With Robin Phenotype
Talipes equinovarus, Short stature, Short humerus, Short femur, Irregular epiphyses, Micrognathia... OMIM:601560
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Short stature, Small for gestational age, Failure to thrive, Cub... OMIM:608154
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Increased head circumference, Abnormal respirat... ORPHA:94068
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Short stature, Swan neck-like deformities of the fingers, Abnormalit... ORPHA:329252
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Disproportionate short-limb short stature, S... OMIM:600121
Marshall-Smith Syndrome
Omphalocele, Apnea, Malar flattening, Atlantoaxial dislocation, Decreased body weight, Umbilical ... OMIM:602535
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Severe... OMIM:619598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Intrauterine growth retardation, Adducted thumb, Small for gestational age, Decreas... OMIM:616897
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Short stature, Multiple small vertebral fractures, P... OMIM:156510
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Short stature, Osteolytic defects ... OMIM:259610
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Short stature, Abnormal sacrum morphology, Coxa vara, Hip dysp... ORPHA:1988
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Malar flattening, Congenital hip dislocation, Deviation of finger, Ingui... ORPHA:2412
Odontochondrodysplasia 1
Genu varum, Death in infancy, Short stature, Delayed eruption of teeth, Genu recurvatum, Short ph... OMIM:184260
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hip contracture, Pes planus, Short long bone, Microretrognathia, Micrognathia, Sma... OMIM:618363
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Malar flattening, 1... OMIM:108720
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Mild sho... OMIM:132400
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Short stature,... OMIM:147891
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... ORPHA:93333
Thanatophoric Dysplasia Type 1
Femoral bowing, Short greater sciatic notch, Respiratory insufficiency, Abnormal sacroiliac joint... ORPHA:1860
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Malar flattening, Abnor... ORPHA:439822
Microphthalmia With Limb Anomalies
Death in infancy, Talipes equinovarus, Short stature, Abnormal form of the vertebral bodies, Fing... ORPHA:1106
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, F... ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Sh... ORPHA:99642
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ... OMIM:231070
Eiken Syndrome
Limited elbow flexion, Short stature, Metaphyseal irregularity, Epiphyseal dysplasia, Cubitus val... ORPHA:79106
Greenberg Dysplasia
Omphalocele, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple prenatal fractures,... OMIM:215140
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Increased bone mineral density, Hypoplasia of the maxill... ORPHA:763
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Micrognathia, Short middle phalanx of finger, Intrauterine growth retardation, Sho... OMIM:211920
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ulnar deviation... OMIM:166300
Premature Aging Syndrome, Penttinen Type
Micrognathia, Delayed eruption of teeth, Osteopenia, Lipoatrophy, Slender long bone, Hypoplasia o... OMIM:601812
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... OMIM:271530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... OMIM:210710
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Upper airway obstruction, F... ORPHA:440354
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Talipes equinovarus, Tapered finger, Short stature, Macrocephaly, Short palm, Camptodactyly of fi... ORPHA:85279
Atelosteogenesis, Type Iii
Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip... OMIM:108721
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short stature, Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Moderately s... OMIM:612350
Aarskog-Scott Syndrome
Short stature, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptod... ORPHA:915
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Talipes equinovarus, Short... OMIM:251450
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Tapered finger, Irregular verte... OMIM:601668
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... ORPHA:79345
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Hypoplasia of the maxilla, Short... OMIM:170390
Carpenter Syndrome 1
Omphalocele, Genu varum, Short stature, Malar flattening, Joint contracture of the hand, Deviatio... OMIM:201000
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Supernumerary tooth, Abnormal bone structure, Multiple impacted tee... ORPHA:83451
Cardiocranial Syndrome, Pfeiffer Type
Micrognathia, Intrauterine growth retardation, Growth delay, Short stature, Deep palmar crease, T... ORPHA:2872
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Failure to thrive in infancy, Intrauterine growth retardation, Flexion contracture ... OMIM:610758
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... ORPHA:93314
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Osteolysis ORPHA:2776
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Short stature, Pes planus, Delayed eruption of teeth, Protrus... OMIM:259600
Ruvalcaba Syndrome
Short stature, Short metatarsal, Small hand, Delayed puberty, Kyphosis, Short metacarpal, Short f... OMIM:180870
Heyn-Sproul-Jackson Syndrome
Intrauterine growth retardation, Broad phalanx, Severe short stature, 11 pairs of ribs, Short met... OMIM:618724
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Micrognathia, Narrow palm, Tapered finger, Sh... OMIM:216550
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Joint contracture of the hand, Radial devi... OMIM:136760
Aicardi Syndrome
Butterfly vertebrae, Multiple lipomas, Small hand, Missing ribs, Hip dysplasia, Hiatus hernia, Bl... ORPHA:50
Aicardi Syndrome
Butterfly vertebrae, Hemivertebrae, Missing ribs, Proximal placement of thumb, Postnatal growth r... OMIM:304050
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Short stature, Cub... OMIM:617396
Dysostosis, Stanescu Type
Carious teeth, Short stature, Abnormality of epiphysis morphology, Bowing of the long bones, Hypo... ORPHA:1798
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short stature, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Absent thumb, ... OMIM:612447
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib... ORPHA:397973
3Mc Syndrome 2
Abnormality of the vertebral column, Radioulnar synostosis, Abnormal vertebral morphology, Cranio... OMIM:265050
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Micrognathia, Large tarsal bones, Prominent interphalangeal joints, Coronal cleft vertebrae, Shor... OMIM:215150
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... ORPHA:157965
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Short stature, Abnormal lumbar spine morphology, Thoracic scoliosi... ORPHA:166011
Acrodysostosis
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Short stature, Epiphyseal ... ORPHA:950
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Na... OMIM:101800
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Hypoplasia of the ma... ORPHA:363417
Kyphomelic Dysplasia
Disproportionate short stature, Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, ... OMIM:211350
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Omphalocele, Foot oligodactyly, Short femur, Scoliosis OMIM:601357
Aarskog-Scott Syndrome
Short stature, Pes planus, Syndactyly, Hypoplasia of the maxilla, Broad palm, Broad foot, Cervica... OMIM:305400
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Birth length less than 3rd percenti... OMIM:224690
Lujan-Fryns Syndrome
Micrognathia, Arachnodactyly, Brachydactyly, Macrocephaly, Camptodactyly of finger, Hypoplasia of... ORPHA:776
Keipert Syndrome
Short hallux, Broad hallux phalanx, Short stature, Broad thumb, Broad distal phalanx of finger, M... ORPHA:2662
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Intrauterine growth retardation, Short stature, Failure to thrive, Congenital diap... OMIM:617602
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Malar flattening, Postnatal growth retardation, Short toe, Anterior scalloping of... OMIM:611717
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Short stature, Fibrous dysplasia of the bones, Rickets, Abnormal bone st... ORPHA:249
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas... OMIM:300106
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Supernumerary tooth, Delayed eruption of tee... OMIM:614188
Three M Syndrome 1
Neonatal respiratory distress, Short stature, Malar flattening, Short ribs, Pes planus, Postnatal... OMIM:273750
Meier-Gorlin Syndrome 4
Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less... OMIM:613804
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplasia of the odontoid process, Hy... OMIM:607326
Meier-Gorlin Syndrome 5
Micrognathia, Intrauterine growth retardation, Patellar aplasia, Short stature, Birth length less... OMIM:613805
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla, Microcephaly OMIM:618383
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Apnea, Mala... OMIM:601559
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Tapered finger, Long fingers, Flexion contracture, Restrictive ventilatory de... OMIM:218000
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Neonatal respiratory distress, Epiphyseal dysplasia, Pes ... OMIM:615777
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Abnormality of cartilage of external ear, Lipomas of eyelids... ORPHA:2399
Maxillonasal Dysplasia
Mandibular prognathia, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx o... ORPHA:1248
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... OMIM:608940
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Neonat... OMIM:259420
Jackson-Weiss Syndrome
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Toe syndactyly, Mandibular prognathia... ORPHA:1540
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Talipes equinovarus, Short stature, Swan neck-like deformities of the fingers, Meta... OMIM:616716
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Short stature, Mandibular prognathia, Large hands, Talipes cal... OMIM:300534
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Split hand, Camptodactyly OMIM:246560
Martsolf Syndrome 1
Metatarsus adductus, Micrognathia, Slender ulna, Talipes equinovarus, Short stature, Short phalan... OMIM:212720
Shprintzen-Goldberg Syndrome
Abnormal form of the vertebral bodies, Apnea, Pes planus, Camptodactyly of finger, Hypoplasia of ... ORPHA:2462
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Abnormality of the wrist, Camptodactyly of finger, Ulnar deviation of ... ORPHA:1529
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Intrauterine growth retardation, Short femur, Short stature, Failure to thrive, Lon... OMIM:264090
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... ORPHA:1427
Shprintzen-Goldberg Craniosynostosis Syndrome
Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvatum, Camptodactyly, H... OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Hallux valgus, Talipes equinovarus, Dysplasia of the femoral head, Postnatal growt... ORPHA:536467
Wt Limb-Blood Syndrome
Micrognathia, Ulnar deviation of thumb, Clinodactyly of the 5th finger, Short thumb, Absent thumb... OMIM:194350
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Short stature, Broad finger, Broad toe, F... OMIM:112910
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Long fingers, Malar flattening, Proximal placement of thumb, Hip dislocation, Pes... OMIM:613458
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Malar flattening, Macrocephaly, Broad thumb, Hypoplasia of t... ORPHA:261295
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Short finger, Short met... OMIM:190351
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Short stature, Cubitus valgus, Malar flattening, Prominent calcaneus, Pe... ORPHA:457395
Meier-Gorlin Syndrome 3
Micrognathia, Genu varum, Intrauterine growth retardation, Aplasia/Hypoplasia of the patella, Tal... OMIM:613803
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Growth delay, Tachypnea, Dyspnea, Osteolytic defects of the midd... ORPHA:765
Familial Median Cleft Of The Upper And Lower Lips
Abnormal mandible morphology, Abnormality of the maxilla ORPHA:401942
Stickler Syndrome Type 1
Abnormality of epiphysis morphology, Platyspondyly, Joint hyperflexibility, Hypoplasia of the max... ORPHA:90653
Acromesomelic Dysplasia 4
Genu varum, Short stature, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thor... OMIM:619636
Van Den Ende-Gupta Syndrome
Hallux valgus, Talipes equinovarus, Malar flattening, Joint contracture of the hand, Long hallux,... OMIM:600920
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Micrognathia, Cutaneous finger syndactyly, Talipes equinovarus, Ulnar devi... OMIM:114300
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short phalanx of finger, Severe short s... OMIM:102370
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Intervertebral space narrowing, Short stature, Mandibular pr... OMIM:601216
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Omphalocele, Short stature, Short metatarsal, Malar flattening, Sho... OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, Limited elbow... OMIM:210720
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Coffin-Lowry Syndrome
Short stature, Abnormal form of the vertebral bodies, Pes planus, Delayed eruption of teeth, Slee... ORPHA:192
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Short stature, Oligodactyly, Aplasia/Hypoplasia of th... ORPHA:1307
Campomelic Dysplasia
Shortening of all phalanges of the toes, Talipes equinovarus, Apnea, 11 pairs of ribs, Femoral bo... OMIM:114290
Cutis Laxa, Autosomal Recessive, Type Ib
Micrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Joint hypermobility, Emphysema, In... OMIM:614437
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Short stature, Mandibular prognathia, Hypoplasia of the maxilla, Decre... ORPHA:93950
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Intrauterine growth retardation, Cone-shaped epiphysis, Mandibular prognat... OMIM:614613
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Short stature, Dysplasia of the femora... ORPHA:536471
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Broad thumb, Craniosynostosis, Malar flattening, P... OMIM:101120
Osteoglophonic Dysplasia
Pseudoarthrosis, Short metatarsal, Malar flattening, Short phalanx of finger, Broad palm, Hypopla... OMIM:166250
Cohen Syndrome
Short stature, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, Micrognathia, Intrau... ORPHA:193
Myhre Syndrome
2-3 toe syndactyly, Short stature, Birth length less than 3rd percentile, Malar flattening, Enlar... OMIM:139210
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Short stature, Shor... OMIM:615222
Microcephaly-Capillary Malformation Syndrome
Short stature, Small for gestational age, Failure to thrive, Progressive microcephaly, Short dist... OMIM:614261
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Camptodactyly of finger, Respiratory failure, Hypoplasia of the maxilla, Micro... ORPHA:2554
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Skraban-Deardorff Syndrome
Micrognathia, Hyperplasia of the maxilla OMIM:617616
Lowry-Maclean Syndrome
Micrognathia, Intrauterine growth retardation, Growth delay, Talon cusp, Congenital diaphragmatic... ORPHA:2409
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Broad long bones, Short stature... OMIM:257850
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Micrognathia, Abnormality of primary molar morphology, Short stature, Limb undergrowth, Spontaneo... OMIM:225410
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Respiratory insufficiency, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Mal... ORPHA:93262
Moebius Syndrome
Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Arthrogryposis multipl... OMIM:157900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short stature, Small for gestational age, Dysplastic sacrum, Tachypnea, Pulm... OMIM:613320
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, S... OMIM:112350
Pseudoleprechaunism Syndrome, Patterson Type
Abnormality of ethmoid bone, Abnormality of the odontoid process, Palmoplantar cutis laxa, Delaye... ORPHA:2976
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal g... OMIM:617102
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Microcephaly OMIM:608432
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Talipes equinovarus, Small for gestational age, Tachypnea, Failu... OMIM:604320
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Finger syndactyly, Sandal gap, Limitation of joint mobility, Camptodactyly of f... ORPHA:178303
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long palm, Mandibular prognathia, Long foot, Slender build, Kyphosis, Macrocephaly, Hypoplasia of... OMIM:300676
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ... OMIM:615546
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Hyperplasia o... ORPHA:313892
Otopalatodigital Syndrome, Type I
Omphalocele, Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing,... OMIM:311300
Kagami-Ogata Syndrome
Omphalocele, Micrognathia, Long fingers, Limb undergrowth, Kyphoscoliosis, Pulmonary arterial hyp... OMIM:608149
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Intrauterine growt... ORPHA:2257
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Micrognathia, Short clavicles, Short 4th metacarpal, Abnormality of ... OMIM:601390
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Short stature, Cigarette-paper scars, Hyperextensibility of the knee, Inguinal ... OMIM:130000
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Tibial bowing, Fibular bowing, Short stature, Bowing of the legs, Enamel h... OMIM:307800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Short stature, Malar flattening, Hip dislocation, Macrocepha... OMIM:109120
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Failure to thrive, Arachnodacty... ORPHA:481152
3M Syndrome
Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Increased vertebral ... ORPHA:2616
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Short stature, Hypoplasia of the radius, Fing... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspo... OMIM:602557
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Disproportionate short-limb short stature, Severe shor... OMIM:127200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Growth delay, Proportionate short stature, Platyspondyly, Os... OMIM:619269
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Micrognathia, Death in infancy, Ulnar deviation of the... OMIM:602613
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ri... OMIM:277440
Chromosome 8Q22.1 Duplication Syndrome
Abnormality of the vertebral column, Hallux valgus, Short stature, Short metatarsal, Cubitus valg... OMIM:151200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hernia of the abdominal wall, Omphalocele, Upper limb undergrowth, Short stature, Epiphyseal stip... ORPHA:96334
Saethre-Chotzen Syndrome
Hallux valgus, Triphalangeal thumb, Short stature, Broad thumb, Craniosynostosis, Abnormal form o... ORPHA:794
Mohr Syndrome
Agenesis of central incisor, Micrognathia, Short stature, Bilateral postaxial polydactyly, Metaph... OMIM:252100
Anauxetic Dysplasia 3
Short middle phalanx of finger, Beaking of vertebral bodies, Platyspondyly, Genu valgum, Joint hy... OMIM:618853
Nicolaides-Baraitser Syndrome
Prominent interphalangeal joints, Intrauterine growth retardation, Growth delay, Short stature, F... OMIM:601358
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short stature, Short metacarpal, Short phalanx of finger, Brachydactyly OMIM:112410
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Micrognathia, Wrist swelling, Cachexia, Abnormality of epiphysis morphology, Metacarpal osteolysi... ORPHA:2774
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Malar flattening, Long fibula, Atlantoaxial instability,... OMIM:271665
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:264700
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Short stature, Slender build, Malar flattening, Cervical vertebral dysplasia,... ORPHA:3455
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Proximal femoral epiphysiolysis, Short stature, Narrow pelvis bone, Craniosynost... OMIM:616723
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Multiple lipomas, Lipomas of eyelids OMIM:167730
Three M Syndrome 2
Intrauterine growth retardation, Short stature, Small for gestational age, Malar flattening, Prom... OMIM:612921
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Dens in dente, Short middle phalanx of fin... OMIM:263540
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Short stature, Short distal phalanx of finger, Coronal craniosynostosis... ORPHA:2095
Wrinkly Skin Syndrome
Carious teeth, Short stature, Pes planus, Delayed eruption of teeth, Postnatal growth retardation... ORPHA:2834
Myhre Syndrome
Intrauterine growth retardation, Large iliac wing, Mandibular prognathia, Abnormality of epiphysi... ORPHA:2588
Neurofaciodigitorenal Syndrome
Intrauterine growth retardation, Triphalangeal thumb, Abnormality of the elbow, Short stature, Ma... ORPHA:2673
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Short stature, Cubitus valgus, Pes planus, Delayed eruption of teeth, Campto... OMIM:143095
Pelvis-Shoulder Dysplasia
Talipes equinovarus, Short stature, Prominent protruding coccyx, Abnormal form of the vertebral b... ORPHA:2839
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Micrognathia, Intrauterine growth retardation, Hip contracture, Talipes, Ulnar deviation of finge... OMIM:210730
Nager Syndrome
Micrognathia, Triphalangeal thumb, Respiratory insufficiency, Phocomelia, Aplasia/Hypoplasia of t... ORPHA:245
Faciocardiomelic Syndrome
Micrognathia, Thin bony cortex, Polydactyly, Cuboid-shaped vertebral bodies, Osteopenia, Microcep... OMIM:612731
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Frontometaphyseal Dysplasia
Keloids, Short metatarsal, Pes valgus, Joint contracture of the hand, Progressive bowing of long ... ORPHA:1826
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... OMIM:602111
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Talipes equinovarus, Short stature, Hemivertebrae, Beaking of vertebral bodies, Cra... OMIM:213980
Three M Syndrome 3
Growth delay, Short stature, Small for gestational age, Prominent calcaneus, Joint hypermobility,... OMIM:614205
Weill-Marchesani Syndrome 2
Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Flexion contracture of toe... OMIM:608328
Nablus Mask-Like Facial Syndrome
Tapered finger, Craniosynostosis, Joint contracture of the hand, Secondary microcephaly, Retrogna... OMIM:608156
Pfeiffer Syndrome
Elbow ankylosis, Mandibular prognathia, Broad thumb, Finger syndactyly, Syndactyly, Broad hallux,... OMIM:101600
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Micrognathia, Short clavicles, Loss of subcutaneous adipose... OMIM:608612
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum ORPHA:2972
Trichorhinophalangeal Syndrome Type 1 And 3
Micrognathia, Shortening of all phalanges of fingers, Cone-shaped epiphysis, Short stature, Short... ORPHA:77258
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Disproportionate short-limb short stature, Multiple prenatal fractu... OMIM:610915
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Polydactyly, Failure to thrive, Apnea, Respiratory distress, Flexion contracture, S... ORPHA:17
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Talipes equinovarus, Short stature, Talipes, Broad distal phalanx of finger, Pes pl... OMIM:300990
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormality of the elbow, Short stature, Abnormal form of the vertebral bodies, Abn... ORPHA:1486
Sponastrime Dysplasia
Abnormality of the vertebral column, Metaphyseal irregularity, Obtuse angle of mandible, Pes plan... ORPHA:93357
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short 3rd metacarpal, Short stature, Rounded epiphyses, Broad distal phalanx ... OMIM:255980
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Spinal canal stenosis, Thin bony cortex, Short stature, Proportiona... OMIM:277600
Cerebrofacioarticular Syndrome
Micrognathia, Talipes equinovarus, Short stature, Osteopenia, Syndactyly, Caudal appendage, Campt... ORPHA:314679
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Short stature, Acetabular dysplasia, Retrognathia, Femoral bowing, Hypoplasia of th... OMIM:616462
Meier-Gorlin Syndrome 2
Micrognathia, Aplasia/Hypoplasia of the patella, Intrauterine growth retardation, Short stature, ... OMIM:613800
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Bowing of the long bones, Generalized... OMIM:617952
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Malar flattening, Epiphyseal dysplasia, Pes planus, Pathologi... OMIM:271640
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Arachnodactyly, Macrocephaly, Flexion contracture, Broad thumb, Hypoplasia of the m... OMIM:309520
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly ORPHA:1276
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, Short stature, Failure to thrive, Kyphoscoliosis, Supernumerary tooth, Delayed erup... OMIM:264475
8Q24.3 Microdeletion Syndrome
Short stature, Pes valgus, Pes planus, Finger clinodactyly, Short femur, Microretrognathia, Thora... ORPHA:508488
Bruck Syndrome 2
Talipes equinovarus, Short stature, Increased susceptibility to fractures, Platyspondyly, Knee fl... OMIM:609220
Codas Syndrome
Omphalocele, Metaphyseal dysplasia, Short stature, Pes valgus, Proximal placement of thumb, Delay... OMIM:600373
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Deformed humerus, Micrognathia, Dislocated radial head, Hypoplasia of the premaxilla, Mandibular ... ORPHA:2975
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... ORPHA:508533
Squalene Synthase Deficiency
Micrognathia, 2-3 toe syndactyly, Intrauterine growth retardation, Failure to thrive in infancy, ... OMIM:618156
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Campomelic Dysplasia
Talipes equinovarus, Short stature, 11 pairs of ribs, Femoral bowing, Short long bone, Poorly oss... ORPHA:140
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Osteoporosis, Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Rec... OMIM:126550
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Tibial bowing, Short stature, Platyspondyly, Flexion contracture, Cervical kyphos... OMIM:245160
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Long foot, Malar flattening, Arachnodactyly, Eunuchoid habitus, Osteopenia, Joint hypermobility, ... ORPHA:2463
Subaortic Stenosis--Short Stature Syndrome
Growth delay, Broad finger, Broad toe, Malar flattening, Small hand, Short foot, Short palm, Shor... OMIM:271960
Frontorhiny
Hypoplastic frontal sinuses, Pericallosal lipoma, Brachydactyly, Camptodactyly of finger, Hypopla... ORPHA:391474
Atypical Rett Syndrome
Growth delay, Abnormal pattern of respiration, Sudden episodic apnea, Small hand, Kyphosis, Episo... ORPHA:3095
Wiedemann-Steiner Syndrome
Short middle phalanx of finger, Growth delay, Short stature, Tapered finger, Failure to thrive, S... OMIM:605130
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Rickets, Abnormal form of the vertebral bodies, Malar fl... ORPHA:2636
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Short stature, Apnea, Short ribs, Rhizomelic arm shortening, Small cervical vertebral bodies, Cer... ORPHA:397715
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... OMIM:304950
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Enlargement ... ORPHA:289157
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand, Ulnar deviation of the ... OMIM:122880
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Micrognathia, Gene... ORPHA:73230
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Short stature, Tapered finger, Taurodontia, S... OMIM:616202
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short stature, Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Genu varum, Metaphyseal dysplasia, Short stature, Metaphyseal chondromatosis of ulna, Metaphyseal... ORPHA:99646
Cleidocranial Dysplasia
Neonatal respiratory distress, Malar flattening, Aplastic clavicle, Absent frontal sinuses, Short... OMIM:119600
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Short stature, Enlargement of the wrists, Delayed eruption of teeth, Increased bone m... ORPHA:289176
Acromesomelic Dysplasia 3
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short phalanx of finger, D... OMIM:609441
Kenny-Caffey Syndrome, Type 1
Carious teeth, Intrauterine growth retardation, Birth length less than 3rd percentile, Small hand... OMIM:244460
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Intrauterine growth retardation, Micromelia, Severe short stature, Short metaca... ORPHA:1422
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short stature, Short metatarsal, Short metacarpal, Short toe, Hypoplasia of the maxilla, Short ph... OMIM:211370
Distal Xq28 Microduplication Syndrome
Metatarsus adductus, Short stature, Epistaxis, Asthma, Hypoplasia of the maxilla, Clinodactyly, M... ORPHA:293939
Joubert Syndrome 7
Central apnea, Postaxial polydactyly, Tachypnea, Episodic tachypnea, Neonatal breathing dysregula... OMIM:611560
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Short stature, Malar flattening, Secondary microcephaly, Preaxial hand polydactyly,... ORPHA:79113
Langer Mesomelic Dysplasia
Mesomelic short stature, Micrognathia, Radial bowing, Madelung deformity, Broad ulna, Hypoplasia ... OMIM:249700
Dominant Beta-Thalassemia
Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ... ORPHA:231226
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased body weight, Short stature ORPHA:93945
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures... OMIM:166220
Peters-Plus Syndrome
Birth length less than 3rd percentile, Short metatarsal, Proximal placement of thumb, Syndactyly,... OMIM:261540
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct... ORPHA:60032
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial ap... OMIM:274000
Otodental Syndrome
Carious teeth, Pulp calcification, Abnormal dental enamel morphology, Delayed eruption of teeth, ... ORPHA:2791
Stickler Syndrome
Short stature, Slender build, Abnormal form of the vertebral bodies, Malar flattening, Abnormal d... ORPHA:828
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Crouzon Disease
Hypoplasia of the maxilla, Respiratory insufficiency, Multiple suture craniosynostosis, Abnormal ... ORPHA:207
Craniolenticulosutural Dysplasia
Carious teeth, Posterior wedging of vertebral bodies, Short stature, Pes planus, Delayed eruption... ORPHA:50814
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphysis, Short stature, Craniosynostosis, Short phalanx of finger, Short ribs, Hypo... OMIM:266920
Osteogenesis Imperfecta
Carious teeth, Neonatal respiratory distress, Short stature, Abnormal form of the vertebral bodie... ORPHA:666
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Micrognathia, Talipes, Hypoplasia of the premaxilla, Postaxial hand polydactyly, Umb... ORPHA:2166
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo... OMIM:601356
Familial Osteodysplasia, Anderson Type
Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Increa... ORPHA:2769
Split-Hand/Foot Malformation 2
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot OMIM:313350
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Bartsocas-Papas Syndrome 1
Omphalocele, Talipes equinovarus, Syndactyly, Hypoplasia of the maxilla, Short phalanx of finger,... OMIM:263650
Apert Syndrome
Toe syndactyly, Cervical C5/C6 vertebrae fusion, Respiratory insufficiency, Mandibular prognathia... ORPHA:87
Rubinstein-Taybi Syndrome 1
Keloids, Radial deviation of thumb terminal phalanx, Short stature, Pes planus, Syndactyly, Postn... OMIM:180849
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Andersen-Tawil Syndrome
Abnormality of dental color, Micrognathia, 2-3 toe syndactyly, Growth delay, Short stature, Small... ORPHA:37553
Beta-Thalassemia Major
Failure to thrive in infancy, Growth delay, Bowing of the long bones, Osteoporosis, Genu valgum, ... ORPHA:231214
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Growth delay, Tachypnea, Pulmonary arterial hypertension, Inguinal hernia OMIM:614857
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Marshall-Smith Syndrome
Failure to thrive, Increased susceptibility to fractures, Craniosynostosis, Bowing of the long bo... ORPHA:561
Primrose Syndrome
Hip contracture, Increased size of the mandible, Short stature, Calcification of the auricular ca... OMIM:259050
Holoprosencephaly 7
Hypoplasia of the premaxilla, Macrocephaly, Omphalocele, Absent nasal septal cartilage OMIM:610828
Cowden Syndrome 5
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... OMIM:615108
Distal Monosomy 19P13.3
Keloids, Arachnodactyly, Long toe, Hypoplasia of the maxilla, Vaginal hernia, Umbilical hernia, J... ORPHA:96129
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Short metatarsal, Malaligned carpal bone, Fibular hypopla... OMIM:228900
Zttk Syndrome
Relative macrocephaly, Intrauterine growth retardation, Growth delay, Short stature, Hemivertebra... OMIM:617140
Czech Dysplasia
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... OMIM:609162
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Genu valgum, Limb undergrowth, Postaxial polydactyly OMIM:619142
Frank-Ter Haar Syndrome
Talipes equinovarus, Camptodactyly, Short phalanx of finger, Short long bone, Anterior concavity ... OMIM:249420
Yunis-Varon Syndrome
Short middle phalanx of finger, Short stature, Short ribs, Syndactyly, Postnatal growth retardati... ORPHA:3472
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Pu... OMIM:265120
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Hypoplasia of the maxilla, Progressive microcephaly OMIM:618737
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Pulp calcification, Short middle phala... OMIM:606895
Joubert Syndrome 23
Tachypnea, Apnea, Polydactyly OMIM:616490
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia, Biparietal narrowing ORPHA:228396
Cowden Syndrome 6
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... OMIM:615109
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Femoral bowing, Rocker bottom foot, Narrow pelvis bone, Malar flattening, Arachnodactyly, Ulnar b... OMIM:207410
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Short stature, Aplasia/... ORPHA:3312
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Arthritis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:616414
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ... ORPHA:2502
Chromosome 2Q37 Deletion Syndrome
Short stature, Short metatarsal, Malar flattening, Short metacarpal, Short toe, Obesity, Short ph... OMIM:600430
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, 11 pairs of ribs, Iliac c... OMIM:250220
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Short stature, Femoroacetabular impingeme... ORPHA:321
Treacher-Collins Syndrome
Abnormality of the vertebral column, Micrognathia, Respiratory insufficiency, Abnormality of bone... ORPHA:861
Pyknoachondrogenesis
Poorly ossified vertebrae, Increased head circumference, Short iliac bones, Aplastic pubic bones,... ORPHA:3003
Orofaciodigital Syndrome Type 2
Short stature, Apnea, Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Sho... ORPHA:2751
Marshall Syndrome
Micrognathia, Short stature, Hypoplastic frontal sinuses, Hypoplasia of the zygomatic bone, Malar... ORPHA:560
Wrinkly Skin Syndrome
Carious teeth, Talipes equinovarus, Short stature, Pes planus, Delayed eruption of teeth, Umbilic... OMIM:278250
Rothmund-Thomson Syndrome Type 2
Carious teeth, Genu varum, Short stature, Abnormal dental enamel morphology, Delayed eruption of ... ORPHA:221016
Crouzon Syndrome
Mandibular prognathia, Abnormality of the cervical spine, Sleep apnea, Coronal craniosynostosis, ... OMIM:123500
Holoprosencephaly 9
Short stature, Malar flattening, Agenesis of incisor, Hypoplasia of the premaxilla, Postaxial han... OMIM:610829
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Broad finger, Small hand, Abnormal hand morphology, Retrognathia, Short phalanx of... OMIM:300845
Saethre-Chotzen Syndrome
Absent first metatarsal, Hallux valgus, Toe syndactyly, Radioulnar synostosis, Short stature, Abn... OMIM:101400
Rothmund-Thomson Syndrome Type 1
Carious teeth, Genu varum, Patellar aplasia, Abnormality of the radial head, Short stature, Growt... ORPHA:221008
Orofaciodigital Syndrome Type 6
Micrognathia, Growth delay, Short stature, Failure to thrive, Apnea, Mesoaxial polydactyly, Foot ... ORPHA:2754
Femoral-Facial Syndrome
Talipes equinovarus, Short stature, Hypoplastic acetabulae, Short humerus, Short fourth metatarsa... OMIM:134780
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Mandibular prognathia, Ulnar deviation of finger, Inguinal hernia, Camptodac... ORPHA:1101
Singleton-Merten Syndrome 1
Carious teeth, Expanded metacarpals with widened medullary cavities, Eruption failure, Hypoplasti... OMIM:182250
Branchioskeletogenital Syndrome
Carious teeth, Mandibular prognathia, Craniosynostosis, Abnormality of the cervical spine, Abnorm... ORPHA:1299
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Micrognathia, Short stature, Clinodactyly, Kyphosis, Sacral dimple, Syndactyly, Macr... OMIM:616894
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypopl... OMIM:276820
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respiratory distress, Acute ... ORPHA:264675
Cowden Syndrome 1
Progressive macrocephaly, Micrognathia, Kyphosis, Subcutaneous lipoma, Scoliosis, Hypoplasia of t... OMIM:158350
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple non-erupting secondary teeth... OMIM:273050
Acitretin/Etretinate Embryopathy
Micrognathia, Abnormality of the calcaneus, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia... ORPHA:40366
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Metatarsus adductus, Micrognathia, Failure to thrive, Contractures of the joints of the lower lim... ORPHA:513456
Joubert Syndrome 30
Tachypnea, Apnea, Postaxial hand polydactyly OMIM:617622
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short stature, Short phalanx of finger, Proximal p... OMIM:268305
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Intrauterine growth retardation, Short stature, Rickets, Growth delay, Respirat... OMIM:613658
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Macrodontia of permanent maxillary central incisor... ORPHA:444072
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Intrauterine growth retardation, Hypoplasia of the nasal bone, Cone-shaped... ORPHA:280651
Cholesterol Pneumonia
Tachypnea, Death in infancy, Cough, Pneumonia OMIM:215030
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Failure to thrive, Cough, Respiratory distress, Respiratory failure OMIM:263000
Aarskog Syndrome, Autosomal Dominant
Single transverse palmar crease, Mild short stature, Pes planus, Genu recurvatum, Radial deviatio... OMIM:100050
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly OMIM:614684
Goldberg-Shprintzen Syndrome
Tapered finger, Small hand, Hypoplasia of the maxilla, Short neck, Clinodactyly, Microcephaly OMIM:609460
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Micrognathia, Retrognathia, Episodic tachypnea ORPHA:163961
Osteogenesis Imperfecta, Type I
Biconcave flattened vertebrae, Otosclerosis, Increased susceptibility to fractures, Osteopenia, J... OMIM:166200
Fetal Akinesia Deformation Sequence 1
Micrognathia, Intrauterine growth retardation, Elbow ankylosis, Rocker bottom foot, Talipes equin... OMIM:208150
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Brachydactyly, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal... ORPHA:306542
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Death in infancy, Early ossification of capital femoral epiphyses, Short sta... OMIM:208500
Angelman Syndrome
Mandibular prognathia, Obesity, Hypoplasia of the maxilla, Secondary microcephaly, Scoliosis OMIM:105830
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Foot polydactyly, Hand polydactyly, Biparietal narrowing, Scoliosis ORPHA:2318
Joubert Syndrome
Abnormal pattern of respiration, Abnormal form of the vertebral bodies, Apnea, Episodic tachypnea... ORPHA:475
Propionic Acidemia
Short stature, Tachypnea, Failure to thrive, Osteoporosis, Apnea OMIM:606054
Dyskeratosis Congenita
Carious teeth, Intrauterine growth retardation, Short stature, Osteoporosis, Palmoplantar keratod... ORPHA:1775
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Trismus OMIM:616367
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Malar flattening, Failure to thrive OMIM:220111
Hyperparathyroidism, Neonatal Severe
Tachypnea, Failure to thrive, Metaphyseal irregularity, Recurrent fractures, Dyspnea OMIM:239200
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Large for gestational age ORPHA:45452
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Intercostal retractions, Re... ORPHA:91359
Rapp-Hodgkin Syndrome
Hypoplasia of the maxilla, Syndactyly, Short stature OMIM:129400
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Umbilical hernia, Inguinal hernia OMIM:601499
Tetanus
Tachypnea, Stiff neck, Trismus, Respiratory distress ORPHA:3299
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Relative macrocephaly, Intrauterine growth retardation, Hemivertebr... ORPHA:500150
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Microcephaly, Episodic tachypnea OMIM:615160
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Abnormality of the upper limb, Abnormality of the lower limb, Fasciitis, Ta... ORPHA:36234
Floating-Harbor Syndrome
Carious teeth, Short clavicles, Growth delay, Humeral pseudarthrosis, Short stature, Small for ge... ORPHA:2044
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Citrullinemia Type I
Tachypnea, Ankle clonus, Failure to thrive ORPHA:247525
Split Lower Lip
Narrow maxilla OMIM:183400
Focal Dermal Hypoplasia
Omphalocele, Short stature, Short metatarsal, Midclavicular hypoplasia, Short ribs, Delayed erupt... OMIM:305600
Branchiooculofacial Syndrome
Micrognathia, Intrauterine growth retardation, Malar flattening, Proximal placement of thumb, Kyp... OMIM:113620
Ablepharon Macrostomia Syndrome
Toe syndactyly, Omphalocele, Growth delay, Hypoplasia of the zygomatic bone, Camptodactyly of fin... ORPHA:920
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Weight loss, Growth delay ORPHA:79242
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Respiratory distr... OMIM:610978
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Agenesis of lateral incisor, Abnormality of dental eruptio... ORPHA:199306
Rhombencephalosynapsis
Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finger syndactyly, M... ORPHA:59315
Double Outlet Right Ventricle
Tachypnea, Abnormality of cartilage of external ear, Short stature, Failure to thrive ORPHA:3426
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Failure to thrive, Decreased DLCO, Res... OMIM:300770
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Dihydropyrimidinase Deficiency
Short phalanx of finger, Growth delay, Talipes equinovarus OMIM:222748
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... ORPHA:79126
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, 2-3 toe syndactyly, Palmoplantar keratoderma OMIM:106260
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Microcephaly, Short metacarpal, Short phalanx of finger, Micromelia, Brachy... OMIM:600092
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Joubert Syndrome 9
Apnea, Scoliosis, Episodic tachypnea OMIM:612285
Joubert Syndrome 2
Abnormal foot morphology, Central apnea, Failure to thrive, Episodic tachypnea, Macrocephaly, Neo... OMIM:608091
Elsahy-Waters Syndrome
Abnormality of the vertebral column, Mandibular prognathia, Malar flattening, Delayed eruption of... OMIM:211380
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Small for gestational age, Tachypnea, Episodic tachypnea, Respiratory distress, Macroc... ORPHA:26793
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Hypoplasia of the maxilla, Cough, Failure to thrive ORPHA:238468
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Eunuchoid habitus ORPHA:3044
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay ORPHA:782
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Failure to thrive, Pulmonary arterial hyperten... ORPHA:99106
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea, Death in infancy, Microcephaly OMIM:201475
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Sting-Associated Vasculopathy, Infantile-Onset
Joint stiffness, Tachypnea, Failure to thrive OMIM:615934
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Genitopatellar Syndrome
Micrognathia, Patellar aplasia, Hip contracture, Talipes equinovarus, Congenital hip dislocation,... OMIM:606170
Nance-Horan Syndrome
Supernumerary maxillary incisor, Broad finger, Screwdriver-shaped incisors, Mulberry molar, Short... OMIM:302350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hand polydactyly, Hypoplasia of the ... OMIM:129900
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Macrocephaly, Neonatal breathing dysregulation, Postaxial foot... OMIM:213300
Craniofacial Microsomia
Micrognathia, Hemivertebrae, Malar flattening, Vertebral hypoplasia, Block vertebrae, Hypoplasia ... OMIM:164210
Joubert Syndrome 3
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Small for gestational age, Tachypnea, Respiratory fai... ORPHA:555874
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Hypoxemia, Small for gestational age, Failure to thrive ORPHA:860
Arteriosclerosis, Severe Juvenile
Short stature, Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger, Delay... OMIM:208060
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Pallister-Killian Syndrome
Omphalocele, Delayed eruption of teeth, 11 pairs of ribs, Short toe, Short phalanx of finger, Umb... OMIM:601803
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Failure to thrive, Elevated pulmonary artery pressure, Pulmonary v... ORPHA:1329
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Toe syndactyly, Malar flattening, Split hand, Hypoplasia of the maxilla, Ectrodact... OMIM:604292
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Hartsfield Syndrome
Craniosynostosis, Syndactyly, Hypoplasia of the frontal bone, Ectrodactyly, Microcephaly OMIM:615465
Hypomandibular Faciocranial Dysostosis
Death in infancy, Craniosynostosis, Maxillozygomatic hypoplasia ORPHA:1790
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Weight loss, Apnea, Microcephaly ORPHA:20
Beta-Ketothiolase Deficiency
Tachypnea, Weight loss, Cough ORPHA:134
Coronary Arterial Fistula
Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Pedal edema ORPHA:2041
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Hypoplasia of the maxilla, Taurodontia, Respiratory distress OMIM:305100
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Rh Deficiency Syndrome
Tachypnea, Hypoxemia, Intrauterine growth retardation ORPHA:71275
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis, Failure to thrive OMIM:618278
Arima Syndrome
Tachypnea, Dyspnea, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:243910
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Agenesis of molar OMIM:313500
Pyruvate Carboxylase Deficiency
Tachypnea, Growth delay, Abnormal pattern of respiration, Failure to thrive ORPHA:3008
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Cholera
Tachypnea, Hyperventilation, Palmoplantar cutis laxa, Aspiration pneumonia ORPHA:173
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation ORPHA:90068
Serotonin Syndrome
Tachypnea ORPHA:43116
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Histiocytoid Cardiomyopathy
Tachypnea, Cough, Failure to thrive ORPHA:137675
Truncus Arteriosus
Tachypnea, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth retardation ORPHA:3384
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Malar flattening, Hypoplasia of the frontal bone OMIM:229400
Proboscis Lateralis
Abnormality of ethmoid bone, Aplasia/Hypoplasia of the maxilla, Abnormality of the maxillary sinu... ORPHA:141099
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Failure to thrive ORPHA:415
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Goodpasture Syndrome
Crackles, Tachypnea, Weight loss, Cough, Exertional dyspnea, Increased DLCO, Restrictive ventilat... OMIM:233450
Scorpion Envenomation
Tachypnea, Abnormal nasal mucus secretion ORPHA:466677
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Exercise-Induced Malignant Hyperthermia
Tachypnea, Hypocapnia, Crackles ORPHA:466650
Aortic Arch Interruption
Tachypnea, Exertional dyspnea, Pedal edema, Respiratory distress ORPHA:2299
Isolated Exencephaly
Abnormality of facial skeleton, Hypoplasia of the frontal bone ORPHA:563612
Joubert Syndrome 5
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:610188
Multisystemic Smooth Muscle Dysfunction Syndrome
Tachypnea, Pulmonary arterial hypertension OMIM:613834

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 Asap1

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 Asap1.

No publications found that use IMPC mice or data for Asap1.

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MGI Allele Allele Type Produced
Asap1em1(IMPC)Wtsi Exon Deletion Mice
Asap1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Asap1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Asap1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Asap1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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