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Gene: Kat2a MGI:1343101

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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:
K(lysine) acetyltransferase 2A
Synonyms:
Gcn5,  1110051E14Rik,  Gcn5l2,  PCAF-B/GCN5

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 Kat2a 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 Kat2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Cervical Rib
Cervical ribs OMIM:117900
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... OMIM:173800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... ORPHA:3268
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... ORPHA:1988
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectus carinatum, Irregular ve... OMIM:609223
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Myasthenic Syndrome, Congenital, 8
Respiratory insufficiency, Ptosis OMIM:615120
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Myasthenic Syndrome, Congenital, 18
Neonatal respiratory distress, Ptosis OMIM:616330
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Septopreoptic Holoprosencephaly
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Hypersulfaturia
Costochondral pain OMIM:620372
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bo... OMIM:608940
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Abnormal carpal morphology, Short metatarsal, Coxa vara, Abnormal rib morpholog... ORPHA:93351
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Genu valgum, Be... OMIM:255710
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial ... OMIM:602111
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Small hand, Rib fusion, Hypo... OMIM:611209
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... OMIM:184252
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Molar tooth sign on MRI, Intrauterine gro... OMIM:614815
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... ORPHA:2522
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Hartsfield Syndrome
Encephalocele, Telecanthus, Respiratory insufficiency, Lobar holoprosencephaly, Intrauterine grow... ORPHA:2117
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:620086
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m... ORPHA:1532
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Proximal 16P11.2 Microdeletion Syndrome
Hand polydactyly, Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra... OMIM:269250
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Slender long bone, Ab... ORPHA:1486
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Long clavicles, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short nec... OMIM:265000
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Joubert Syndrome 7
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI OMIM:612285
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... OMIM:151210
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral c... OMIM:602557
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Progressive ptosis OMIM:164300
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting... ORPHA:2990
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Hip dyspl... OMIM:619698
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Short ... OMIM:213980
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion, Posterior r... ORPHA:263508
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r... ORPHA:50
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Intrauterine growth retardation, Thick eyebrow, Ptosis OMIM:606242
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:2097
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Short thorax, Abnormal... ORPHA:582
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Short n... ORPHA:2616
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... ORPHA:1507
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, Agenesis... OMIM:207950
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... ORPHA:2484
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Epicanthus, Ptosis ORPHA:1373
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Short neck, Metaphys... OMIM:253000
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Neonatal respiratory distress, Respiratory insufficiency, Ptosis OMIM:616326
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... OMIM:304050
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... ORPHA:93352
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... OMIM:300232
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Dystonia 31
Abnormal posturing OMIM:619565
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis OMIM:119580
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Apnea, Ptosis OMIM:614198
Joubert Syndrome 30
Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on MRI, Dandy-Walker malforma... OMIM:617622
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... ORPHA:163966
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... ORPHA:2050
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Umbilical hernia, ... OMIM:615834
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Short long bone... OMIM:616229
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... ORPHA:958
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Hypophosphatasia
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology ORPHA:436
Cluster Headache, Familial
Rhinorrhea, Ptosis OMIM:119915
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Respiratory insufficiency, Ptosis OMIM:616321
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Hypoplasia of t... OMIM:608091
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Small for gestational age ORPHA:63862
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Flared metaphysis, Abno... OMIM:224300
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compre... OMIM:617952
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220497
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... OMIM:617895
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis OMIM:300580
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thoracolumbar scoliosis, Hyper... OMIM:618019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... OMIM:620076
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scoliosis, Biconcave ... OMIM:259420
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... ORPHA:583
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Slc35A2-Cdg
Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Kyphoscoliosis, Bifid distal phalanx of the thumb, Missing ... ORPHA:97360
Thoraco-Abdominal Enteric Duplication
Meningocele, Respiratory insufficiency ORPHA:1759
Myasthenic Syndrome, Congenital, 10
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Ptosis OMIM:254300
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220493
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hyperlordosis, Metap... OMIM:253010
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Downslante... OMIM:611890
Joubert Syndrome 1
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasia, Occipital myelo... OMIM:213300
Adult Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178487
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,... ORPHA:3258
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, La... OMIM:608629
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ptosis OMIM:618637
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Wildervanck Syndrome
Meningocele ORPHA:3456
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Synophrys, Meningocele, Thick eyebrow,... ORPHA:894
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Respiratory insufficiency, Ptosis OMIM:616324
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Camptodactyly Syndrome, Guadalajara Type 1
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Synophrys, Blepharophimosis, Intrau... ORPHA:1327
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... ORPHA:3068
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Fazio-Londe Disease
Progressive inspiratory stridor, Ptosis OMIM:211500
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure... OMIM:301069
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Respiratory insufficiency, Ptosis OMIM:616322
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical... OMIM:157800
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Ptosis OMIM:616325
Humero-Radial Synostosis
Meningocele ORPHA:3265
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Ptosis OMIM:616681
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... ORPHA:2911
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, Downslanted pa... OMIM:300590
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Ptosis ORPHA:171706
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Tibial bowing,... OMIM:613848
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis ORPHA:2211
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Occipi... ORPHA:268810
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Zttk Syndrome
Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Scoliosis OMIM:617140
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm OMIM:244460
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Abnorma... ORPHA:1834
Coffin-Siris Syndrome 8
Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Absent thumb, Absent radius, Aphalang... OMIM:218600
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation, Chiari malformation ORPHA:2481
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... ORPHA:1791
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:277720
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Anophthalmia Plus Syndrome
Blepharophimosis, Eyelid coloboma, Spina bifida ORPHA:1104
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Short finger, Thin ribs OMIM:312150
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Ptosis OMIM:603034
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Meningocele, Respiratory insufficiency, Ptosis ORPHA:2031
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid femur, Abnormal form of... ORPHA:2769
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Duplication Of The Pituitary Gland
Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Char Syndrome
Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis OMIM:609283
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Alobar holoprosencephaly OMIM:615433
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo... ORPHA:1606
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Downslanted palpebral fissures, Ptosis OMIM:618736
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Short finger, Thin ribs OMIM:253290
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... OMIM:225500
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis OMIM:617268
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:3015
Frontonasal Dysplasia 1
Cranium bifidum occultum, Epicanthus, Anterior basal encephalocele, Ptosis OMIM:136760
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P... ORPHA:175
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:618198
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Ptosis OMIM:301830
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Blepharophimosis, Telecanthus, Ptosis OMIM:606772
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis ORPHA:589905
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Highly arched eyebrow, Hydrocephalus, Abnormal pattern ... ORPHA:475
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Thick eyebrow, Ptosis ORPHA:444002
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Ptosis OMIM:614669
Borjeson-Forssman-Lehmann Syndrome
Blepharophimosis, Narrow palpebral fissure, Ptosis OMIM:301900
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Scoliosis, Broad ribs, Genu varum OMIM:269300
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Thin ribs OMIM:618265
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis OMIM:613561
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... OMIM:135700
Fountain Syndrome
Epicanthus, Spina bifida, Synophrys, Spina bifida occulta, Thick eyebrow, Ptosis ORPHA:3219
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem... ORPHA:89936
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis OMIM:258470
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation ORPHA:79321
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Myoclonus, Intractable, Neonatal
Apnea, Ptosis OMIM:617235
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Aspiration pneumonia, Cough ORPHA:216866
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Ptosis ORPHA:663
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis ORPHA:1390
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Abnor... OMIM:109400
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Combined Oxidative Phosphorylation Deficiency 20
Respiratory insufficiency, Ptosis OMIM:615917
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Frontometaphyseal Dysplasia 1
Carpal synostosis, Bowing of the long bones, Scapular winging, Arachnodactyly, Interphalangeal jo... OMIM:305620
Joubert Syndrome 26
Ptosis OMIM:616784
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Respiratory insufficiency due to muscle weakness, Ptosis OMIM:608930
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Downslanted palpebral fissures, Ptosis OMIM:616355
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency, Ptosis ORPHA:93262
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis ORPHA:2057
Frontoocular Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:605321
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:619185
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Patent ductus arteriosus, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on M... OMIM:616300
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Acromelic Frontonasal Dysplasia
Encephalocele, Telecanthus, Meningocele, Upper airway obstruction, Ptosis ORPHA:1827
Infantile Sialic Acid Storage Disease
Epicanthus, Hydrocephalus, Ptosis OMIM:269920
Purpura Simplex
Epistaxis, Ptosis OMIM:179000
Distal Duplication 15Q
Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis ORPHA:1707
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ptosis OMIM:618225
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3301
Congenital Myopathy 4A, Autosomal Dominant
Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness, Respiratory insu... OMIM:255310
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Ptosis OMIM:618238
Autosomal Dominant Spastic Ataxia Type 1
Ptosis, Abnormal eyelid morphology ORPHA:251282
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Spina bifida ORPHA:99742
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Congenital Myopathy 19
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Ptosis OMIM:618578
Arthrogryposis, Distal, Type 5
Epicanthus, Reduced forced expiratory volume in one second, Restrictive ventilatory defect, Exert... OMIM:108145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Coffin-Siris Syndrome 5
Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Ptosis OMIM:616938
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ptosis OMIM:607684
Crouzon Syndrome
Hydrocephalus, Conjunctivitis, Respiratory insufficiency, Ptosis ORPHA:207
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis ORPHA:1875
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Dyspnea, Exertional dyspnea, Ptosis OMIM:615156
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis ORPHA:1825
Coffin-Siris Syndrome 3
Long eyelashes, Umbilical hernia, Intrauterine growth retardation, Thick eyebrow, Ptosis OMIM:614608
Neuropathy, Hereditary Motor And Sensory, Russe Type
Ptosis OMIM:605285
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... ORPHA:672
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Narrow ches... OMIM:617022
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Ascher Syndrome
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology ORPHA:1253
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619989
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intermittent episodes of respiratory insufficiency due to muscle weakness, Ptosis OMIM:601462
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Richieri-Costa/Guion-Almeida Syndrome
Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis OMIM:268850
Myasthenic Syndrome, Congenital, 12
Ptosis OMIM:610542
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... ORPHA:83
Li-Campeau Syndrome
Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:619189
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Rib fusion, Short foot, Hip dyspl... OMIM:607872
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Bleph... OMIM:617360
Proximal Xq28 Duplication Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:1762
Congenital Myopathy With Myasthenic-Like Onset
Respiratory insufficiency due to muscle weakness, Ptosis ORPHA:424107
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Agenesis of corpus ... OMIM:277170
Amyotrophy, Hereditary Neuralgic
Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis OMIM:162100
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Ptosis, Restrictive ventilatory defect, Respiratory failure, E... ORPHA:98913
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Myelomeningocele, Synophrys, Blepharop... OMIM:193500
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Ptosis OMIM:618226
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Spina bifida, Tracheomalacia, Myelomeningocele, Meningocele, Hydra... ORPHA:1393
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency due to muscle weakness, Ptosis OMIM:608931
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Intr... OMIM:613792
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... OMIM:600920
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Rib fusion, Hemivertebrae, Sl... ORPHA:500150
Legius Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:611431
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Ptosis OMIM:312170
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Recurrent pneumon... OMIM:619293
Paroxysmal Hemicrania
Ptosis, Palpebral edema, Rhinitis, Conjunctival hyperemia, Rhinorrhea ORPHA:157835
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Aspiratio... ORPHA:314655
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Intrauterine growth retardation, Ptosis OMIM:255200
Intellectual Developmental Disorder With Autism And Macrocephaly
Downslanted palpebral fissures, Ptosis OMIM:615032
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Terminal Osseous Dysplasia
Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis OMIM:300244
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Short thumb, ... ORPHA:90652
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... ORPHA:887
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Upslanted palpebral fissure, Spina bifida occulta ORPHA:2437
Gracile Bone Dysplasia
Slender long bone, Brachydactyly, Flared metaphysis, Thin ribs OMIM:602361
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Umbilical hernia, Downslanted palpebral fissures, Ptosis ORPHA:1778
Craniosynostosis 6
Spina bifida occulta, Ptosis OMIM:616602
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Spina bifida occulta, Ptosis ORPHA:1185
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis OMIM:615761
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Telecanthus, Ptosis ORPHA:397973
Trisomy 5P
Ptosis ORPHA:1742
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, Hydrocephalus, Synophrys, Narrow pa... OMIM:613776
Fetal Trimethadione Syndrome
Epicanthus, Intrauterine growth retardation, Synophrys, Ptosis ORPHA:1913
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Respiratory insufficiency due to muscle weakness, Ptosis OMIM:608423
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormal rib morphology, Spina... ORPHA:93473
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Reduced forced vital capacity, Ptosis OMIM:619566
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis OMIM:300882
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Ptosis OMIM:256000
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:2215
Baraitser-Winter Syndrome 2
Long palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis OMIM:614583
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis ORPHA:2743
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Ptosis OMIM:618958
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... ORPHA:444072
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Respiratory insufficiency, Respiratory failure, Neonatal death, Ptosis OMIM:618186
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Mcdonough Syndrome
Synophrys, Short palpebral fissure, Ptosis ORPHA:2471
Sclerosteosis
Ptosis ORPHA:3152
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis ORPHA:457365
X-Linked Mandibulofacial Dysostosis
Epicanthus, Branchial anomaly, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1131
3Mc Syndrome
Telecanthus, Highly arched eyebrow, Blepharophimosis, Umbilical hernia, Epicanthus inversus, Spin... ORPHA:293843
Mitochondrial Dna Depletion Syndrome 11
Dyspnea, Respiratory insufficiency, Ptosis OMIM:615084
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Congenital Myopathy 22A, Classic
Bilateral ptosis, Synophrys, Respiratory insufficiency, Normal pressure hydrocephalus, Neonatal d... OMIM:620351
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Patent ductus a... OMIM:249000
Pontocerebellar Hypoplasia, Type 16
Apnea, Ptosis OMIM:619527
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Bilateral ptosis, Respiratory insufficiency, Ptosis OMIM:616479
Craniosynostosis 3
Ptosis OMIM:615314
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis OMIM:617333
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616801
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnorma... ORPHA:68
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Myelomeningocele, Synophrys, Ptosis ORPHA:3440
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ptosis OMIM:617468
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Superio... OMIM:600638
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Cerebellar hypoplasia, Spina bifida OMIM:616038
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Severe intrauterine growth retardation, Small placenta, Intrauterine... ORPHA:73272
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Ptosis ORPHA:352447
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... OMIM:277600
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Blepharophimosis, Pulmonary arterial hypertension, Downslanted palpebral fissures, Ptosis ORPHA:391372
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Synophrys, Long eyelashes, Ptosis ORPHA:238750
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... ORPHA:261344
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae OMIM:265380
Childhood-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Ptosis ORPHA:171439
Distal Duplication 6P
Abnormal eyelash morphology, Intrauterine growth retardation, Blepharophimosis, Ptosis ORPHA:1745
Aase-Smith Syndrome I
Hydrocephalus, Ptosis OMIM:147800
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Ptosis OMIM:617143
Non-Distal Deletion 10Q
Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys ORPHA:1581
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Blepharophimosis, Synophrys, Thick eyebrow, Ptosis OMIM:210745
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Kyphos... OMIM:304150
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology ORPHA:79139
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of... OMIM:610682
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Riboflavin Transporter Deficiency
Respiratory insufficiency, Ptosis ORPHA:97229
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:615009
Frontorhiny
Encephalocele, Epicanthus, Basal encephalocele, Cranium bifidum occultum, Ptosis ORPHA:391474
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Lateral Meningocele Syndrome
Epicanthus, Meningocele, Umbilical hernia, Downslanted palpebral fissures, Ptosis ORPHA:2789
Coenzyme Q10 Deficiency, Primary, 4
Ptosis OMIM:612016
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted palpebral fi... ORPHA:73246
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Ptosis OMIM:616083
Congenital Myopathy 6 With Ophthalmoplegia
Ptosis OMIM:605637
Aarskog-Scott Syndrome
Umbilical hernia, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:915
Coffin-Siris Syndrome 2
Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Ptosis OMIM:614607
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Abnormally ossified vertebrae, Hyperlordosis, Abnormal r... ORPHA:800
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Abnormal posturing OMIM:128100
Hengel-Maroofian-Schols Syndrome
Epicanthus, Synophrys, Thick eyebrow, Ptosis OMIM:619641
Rhyns Syndrome
Ptosis ORPHA:140976
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178481
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Respiratory insufficiency, Downslanted palpebral f... ORPHA:245
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra... OMIM:229400
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Ptosis OMIM:616313
Toxin-Mediated Infectious Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:230800
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Umbilical hernia, Downslanted palpebral fissures, Ptosis ORPHA:2496
Warburg Micro Syndrome 1
Ptosis OMIM:600118
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Upslanted palpebral fissure, Horizontal eyebrow, Umbilical hernia, Ptosis ORPHA:369891
Waardenburg Syndrome Type 2
Telecanthus, Ptosis ORPHA:895
Monosomy 18P
Epicanthus, Holoprosencephaly, Ptosis ORPHA:1598
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology ORPHA:2720
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Spinocerebellar Ataxia, Autosomal Recessive 31
Ptosis OMIM:619422
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Partial agenesis... OMIM:615948
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:3236
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Ptosis OMIM:616323
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis OMIM:619465
Sunct Syndrome
Rhinorrhea, Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:2053
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ptosis OMIM:125250
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Ptosis OMIM:255320
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Spinocerebellar Ataxia, Autosomal Recessive 32
Ptosis OMIM:619862
Tetrasomy 12P
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis ORPHA:884
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation, Umbilical hernia OMIM:130720
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Respiratory insufficiency, Ptosis OMIM:618170
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Chronic sinusitis, P... OMIM:615636
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... OMIM:117650
Trisomy 20P
Epicanthus, Highly arched eyebrow, Spina bifida, Upslanted palpebral fissure, Blepharophimosis, U... ORPHA:261318
Oculopharyngodistal Myopathy 3
Ptosis OMIM:619473
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... ORPHA:2588
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Short palpebral fissure, Spina bifida ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Ptosis OMIM:616828
Trisomy 17P
Hydrocephalus, Intrauterine growth retardation, Downslanted palpebral fissures, Broad eyebrow, Pt... ORPHA:261290
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Upslanted palpebral fissure, Long eyelashes, Intrauterine growth r... OMIM:617595
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Blepharophimosis, Intrauterine growth retardation, Broad eyebrow, Ptosis ORPHA:494344
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Lathosterolosis
Epicanthus, Meningocele, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis ORPHA:46059
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis OMIM:610743
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Hydrocephalus, Ptosis OMIM:603387
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Spinocerebellar Ataxia With Epilepsy
Ptosis ORPHA:254881
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Wieacker-Wolff Syndrome
Upslanted palpebral fissure, Neonatal respiratory distress, Apnea, Ptosis OMIM:314580
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Ptosis ORPHA:1154
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:618659
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis OMIM:618049
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Highly arched eyebrow, Hydrocephalus, Abnormal pattern of respira... ORPHA:1454
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
King-Denborough Syndrome
Bilateral ptosis, Downslanted palpebral fissures, Ptosis OMIM:619542
Developmental And Epileptic Encephalopathy 84
Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:618792
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Acrocraniofacial Dysostosis
Telecanthus, Spina bifida occulta, Downslanted palpebral fissures, Ptosis ORPHA:949
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Myopathy, Myofibrillar, 8
Restrictive ventilatory defect, Reduced vital capacity, Ptosis OMIM:617258
Muenke Syndrome
Hydrocephalus, Ptosis ORPHA:53271
Shashi-Pena Syndrome
Epicanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardation, Pt... OMIM:617190
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Ptosis OMIM:615280
Holoprosencephaly 4
Ptosis, Semilobar holoprosencephaly OMIM:142946
Emanuel Syndrome
Hooded eyelid, Hydrocephalus, Upslanted palpebral fissure, Cough, Intrauterine growth retardation... ORPHA:96170
Noonan Syndrome 8
Pleural effusion, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:615355
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral... OMIM:612513
Lymphedema-Hypoparathyroidism Syndrome
Restrictive ventilatory defect, Telecanthus, Ptosis OMIM:247410
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Curry-Jones Syndrome
Chiari type I malformation, Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum OMIM:601707
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Rubinstein-Taybi Syndrome
Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Respiratory insuff... ORPHA:783
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Ptosis ORPHA:1473
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ptosis OMIM:252011
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of the ver... ORPHA:666
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Wound Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Ptosis ORPHA:178475
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Recurrent pneumonia, Asthma, Airway obstruction, Umbilical hernia, Tracheobronchom... OMIM:309900
Schwartz-Jampel Syndrome, Type 1
Narrow palpebral fissure, Long eyelashes in irregular rows, Blepharophimosis, Umbilical hernia, P... OMIM:255800
Joubert Syndrome 38
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia OMIM:619476
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Ptosis OMIM:615838
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Bilateral ptosis, Respirato... ORPHA:98915
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Hy... ORPHA:3404
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Intrauterine growth r... OMIM:613026
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis, Intrauterine growth retardation, Neonatal asphyxia, Ptosis ORPHA:2728
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... OMIM:617088
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Long eyelashes, Ptosis OMIM:617523
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Restrictive ventilatory defect, Ptosis OMIM:218000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Umbilical hernia, Downslanted palpebral fissures, Ptosis ORPHA:1555
Arthrogryposis, Distal, Type 2A
Epicanthus, Telecanthus, Blepharophimosis, Spina bifida occulta, Ptosis OMIM:193700
3Mc Syndrome 1
Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Synophrys, Blepharophimosis, Epi... OMIM:257920
Buratti-Harel Syndrome
Epicanthus, Recurrent pneumonia, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619314
Myopathy, Centronuclear, 1
Ptosis OMIM:160150
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Hydrocephalus, Umbilical hernia, Downslanted palpebral fissures, Ptosis OMIM:104350
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Long eyelashes, Ptosis OMIM:619076
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:619075
Inclusion Body Myopathy And Brain White Matter Abnormalities
Ptosis OMIM:619733
Orofaciodigital Syndrome Xvi
Apnea, Short palpebral fissure, Ptosis OMIM:617563
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Telecanthus, Neonatal respiratory distress, Tracheomalacia, Blepharophimosi... OMIM:217980
Fetal Alcohol Syndrome
Intrauterine growth retardation, Epicanthus, Telecanthus, Ptosis ORPHA:1915
Ververi-Brady Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Ptosis OMIM:617982
Autosomal Recessive Dopa-Responsive Dystonia
Ptosis ORPHA:101150
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis ORPHA:2617
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissure... OMIM:620098
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis OMIM:618731
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Epicanthus, Ptosis OMIM:615668
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Epicanthus, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissures, Thick eyebrow... OMIM:617061
Myasthenic Syndrome, Congenital, 14
Ptosis OMIM:616228
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Muenke Syndrome
Downslanted palpebral fissures, Ptosis OMIM:602849
Isolated Atp Synthase Deficiency
Respiratory distress, Ptosis ORPHA:254913
Ohdo Syndrome
Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis OMIM:249620
Leukodystrophy, Hypomyelinating, 20
Ptosis OMIM:619071
Wagr Syndrome
Ptosis ORPHA:893
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis ORPHA:254886
Noonan Syndrome 5
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:611553
Fetal Hydantoin Syndrome
Intrauterine growth retardation, Epicanthus, Ptosis ORPHA:1912
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure... OMIM:619087
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Neu-Laxova Syndrome
Abnormal nasolacrimal system morphology, Spina bifida, Abnormal eyelid morphology, Abnormal eyela... ORPHA:2671
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Congenital Ptosis
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Congenital bilat... ORPHA:91411
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis ORPHA:2988
Spinocerebellar Ataxia 50
Ptosis OMIM:620158
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth sign on MRI OMIM:619479
Baraitser-Winter Syndrome 1
Long palpebral fissure, Epicanthus, Highly arched eyebrow, Ptosis OMIM:243310
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Hydrocephalus, Nasolacrimal duct obstructio... OMIM:147791
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis ORPHA:2511
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... OMIM:192350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpal, Abnormal metacarpa... ORPHA:95699
Oculopharyngodistal Myopathy 4
Ptosis OMIM:619790
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Ruvalcaba Syndrome
Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis ORPHA:3121
Noonan Syndrome 9
Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:616559
Weiss-Kruszka Syndrome
Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:618619
Proximal Myopathy With Extrapyramidal Signs
Ptosis ORPHA:401768
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1784
Prolidase Deficiency
Asthma, Recurrent pneumonia, Chronic lung disease, Ptosis OMIM:170100
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Spinocerebellar Ataxia 47
Ptosis OMIM:617931
Trisomy 18
Spina bifida, Anencephaly, Chiari malformation, Holoprosencephaly, Intrauterine growth retardation ORPHA:3380
Congenital Myopathy 5 With Cardiomyopathy
Ptosis OMIM:611705
Intellectual Developmental Disorder, Autosomal Dominant 56
Upslanted palpebral fissure, Ptosis OMIM:617854
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Ptosis OMIM:258450
Distal Deletion 3P
Epicanthus, Telecanthus, Blepharophimosis, Umbilical hernia, Intrauterine growth retardation, Ptosis ORPHA:1620
Holoprosencephaly
Encephalocele, Epicanthus, Highly arched eyebrow, Hydrocephalus, Synophrys, Respiratory insuffici... ORPHA:2162
Dubowitz Syndrome
Ptosis, Epicanthus, Telecanthus, Hydrocephalus, Asthma, Respiratory insufficiency, Blepharophimos... ORPHA:235
Autosomal Dominant Centronuclear Myopathy
Respiratory insufficiency due to muscle weakness, Neonatal asphyxia, Ptosis ORPHA:169189
Scarf Syndrome
Umbilical hernia, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:3134
Iatrogenic Botulism
Dyspnea, Ptosis ORPHA:254509
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Cerebellar vermis hypoplasia ORPHA:2754
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Long eyelashes, Apnea, Ptosis OMIM:617301
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Ptosis OMIM:608747
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Sparse eyebrow, Long eyelashes, Blepharophimosis, Intrauterine growth re... ORPHA:261349
20Q11.2 Microduplication Syndrome
Epicanthus, Palpebral edema, Abnormal shape of the palpebral fissure, Severe intrauterine growth ... ORPHA:363659
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis ORPHA:70594
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Ptosis ORPHA:98905
Hypotonia-Cystinuria Syndrome
Long eyelashes, Ptosis OMIM:606407
Pde4D Haploinsufficiency Syndrome
Long palpebral fissure, Intrauterine growth retardation, Narrow palpebral fissure, Ptosis ORPHA:439822
Infant Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Keratoconjunctivitis sicca, Ptosis ORPHA:178478
Mosaic Trisomy 9
Intrauterine growth retardation, Patent ductus arteriosus, Dandy-Walker malformation, Spina bifida ORPHA:99776
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Long eyelashes, Intrauterine growth retardation, Short palpebral fissure, ... OMIM:615866
Foodborne Botulism
Respiratory insufficiency due to muscle weakness, Cardiorespiratory arrest, Ptosis ORPHA:228371
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia OMIM:616202
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... ORPHA:572333
Tyshchenko Syndrome
Intrauterine growth retardation, Ptosis OMIM:615102
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal respiratory distress, Epicanthus, Lacrimal duct stenosis, Ptosis ORPHA:457193
Nail-Patella Syndrome
Antecubital pterygium, Spina bifida, Ptosis OMIM:161200
Acromelic Frontonasal Dysostosis
Encephalocele, Telecanthus, Upper airway obstruction, Downslanted palpebral fissures, Ptosis OMIM:603671
Frontotemporal Dementia With Motor Neuron Disease
Ptosis ORPHA:275872
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Noonan Syndrome 4
Epicanthus, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis OMIM:610733
Developmental And Epileptic Encephalopathy 110
Ptosis OMIM:620149
Marden-Walker Syndrome
Blepharophimosis, Intrauterine growth retardation, Epicanthus, Ptosis OMIM:248700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu... OMIM:220110
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Hydrocephalus, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:613603
Hallermann-Streiff Syndrome
Sparse eyelashes, Spina bifida, Sparse eyebrow, Recurrent pneumonia, Tracheomalacia, Pulmonary ar... OMIM:234100
Neonatal Adrenoleukodystrophy
Ptosis ORPHA:44
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyebrow, Absent eyebrow, Meningocele, Sparse eyelashes ORPHA:1010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis OMIM:615351
Inhalational Botulism
Dyspnea, Ptosis ORPHA:254504
Vici Syndrome
Epicanthus, Abnormal posturing, Ptosis OMIM:242840
Spastic Ataxia 5, Autosomal Recessive
Ptosis OMIM:614487
Ehlers-Danlos Syndrome, Classic-Like, 2
Umbilical hernia, Bilateral ptosis, Thin eyebrow, Ptosis OMIM:618000
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Neonatal respiratory distress, Umbilical hernia, Intrauterine growth retardation, Ptosis OMIM:618164
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Upslanted palpebral fissure, Umbilical hernia, Ptosis OMIM:619758
Non-Specific Early-Onset Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis ORPHA:442835
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae OMIM:619122
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis OMIM:616549
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow OMIM:619955
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Intrauterine growth retardation, Ptosis ORPHA:1323
Brain Dopamine-Serotonin Vesicular Transport Disease
Stridor, Ptosis ORPHA:352649
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i... OMIM:164310
Congenital Myopathy 13
Telecanthus, Hypercapnia, Hypoxemia, Restrictive ventilatory defect, Blepharophimosis, Downslante... OMIM:255995
Typical Nemaline Myopathy
Nocturnal hypoventilation, Respiratory insufficiency, Ptosis ORPHA:171436
Borjeson-Forssman-Lehmann Syndrome
Blepharophimosis, Thick eyebrow, Ptosis ORPHA:127
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ptosis ORPHA:313772
Campomelic Dysplasia
Respiratory distress, Epicanthus, Neonatal respiratory distress, Apnea, Spina bifida, Tracheomala... OMIM:114290
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Cranium bifidum occultum, Ptosis ORPHA:306542
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Respiratory insufficiency due to muscle weakness, Ptosis OMIM:612073
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Cerebrooculonasal Syndrome
Encephalocele, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hydrocephalus, Ptosis OMIM:605627
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:300260
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Telecanthus, Apnea, Umbilical hernia, Downslanted palpebral fissures... ORPHA:2462
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Ptosis ORPHA:363429
Jacobsen Syndrome
Epicanthus, Ectropion, Spina bifida, Eyelid coloboma, Intrauterine growth retardation, Downslante... ORPHA:2308
Congenital Myasthenic Syndromes With Glycosylation Defect
Ptosis ORPHA:353327
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Ptosis ORPHA:298
22Q11.2 Duplication Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:1727
Myopathy With Extrapyramidal Signs
Epicanthus, Ptosis OMIM:615673
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Recurrent pneumonia, Pulmonary arterial hypertension, Downslanted palpebral fissures,... OMIM:616449
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619493
Kury-Isidor Syndrome
Downslanted palpebral fissures, Ptosis OMIM:619762
Combined Oxidative Phosphorylation Deficiency 32
Ptosis OMIM:617664
Arthrogryposis Multiplex Congenita 5
Neonatal respiratory distress, Upslanted palpebral fissure, Restrictive ventilatory defect, Umbil... OMIM:618947
Codas Syndrome
Epicanthus, Ptosis ORPHA:1458
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Ptosis OMIM:243180
Cardiofaciocutaneous Syndrome
Epicanthus, Abnormal eyelash morphology, Hydrocephalus, Sparse or absent eyelashes, Long palpebra... ORPHA:1340
Good Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Cough, Ptosis ORPHA:169105
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Nasolacrimal duct obstruction, Ptosis ORPHA:1297
Six2-Related Frontonasal Dysplasia
Intrauterine growth retardation, Epicanthus inversus, Ptosis ORPHA:488437
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Apnea, Cardiorespiratory arrest, Ptosis OMIM:608643
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Ptosis ORPHA:66629
Baraitser-Winter Cerebrofrontofacial Syndrome
Telecanthus, Epicanthus, Palpebral edema, Highly arched eyebrow, Euryblepharon, Long palpebral fi... ORPHA:2995
Short Stature And Facioauriculothoracic Malformations
Ptosis OMIM:609654
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Eversion of latera... OMIM:616737
Au-Kline Syndrome
Lagophthalmos, Lipomyelomeningocele, Shallow orbits, Long palpebral fissure, Downslanted palpebra... OMIM:616580
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
22Q11.2 Deletion Syndrome
Ptosis, Telecanthus, Epicanthus, Spina bifida, Abnormal eyelid morphology, Hydrocephalus, Meningo... ORPHA:567
Refsum Disease
Respiratory insufficiency, Ptosis ORPHA:773
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis OMIM:619046
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ptosis ORPHA:1933
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Downslanted palpebral fissures, Ptosis OMIM:123790
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Hyperventilation, Upslanted palpebral fissure, Blepharophimosis, Ptosis OMIM:618050
Acrofrontofacionasal Dysostosis 2
Downslanted palpebral fissures, Ptosis OMIM:239710
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,... ORPHA:818
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:110100
Scarf Syndrome
Umbilical hernia, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:312830
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Ptosis, Hooded eyelid, Epistaxis, Highly arched eyebrow, Sparse eyeb... OMIM:619841
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Branchial anomaly, Shallow orbits, Long palpebral fissure, Intrauterine growth retardation, Pleur... ORPHA:453499
Myasthenic Syndrome, Congenital, 19
Respiratory insufficiency, Ptosis OMIM:616720
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Absent eyelashes, Hydrocephalus, Palpebral thickening, Downslanted pa... OMIM:115150
Neu-Laxova Syndrome 1
Spina bifida, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small placenta, Cerebel... OMIM:256520
Gabriele-De Vries Syndrome
Telecanthus, Sparse eyebrow, Epiblepharon, Intrauterine growth retardation, Downslanted palpebral... OMIM:617557
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Truncal titubation, Ptosis OMIM:607483
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Ptosis ORPHA:137898
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Ptosis OMIM:220500
Unilateral Polymicrogyria
Abnormal posturing, Apnea, Epistaxis ORPHA:268943
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasolacrimal duct ob... OMIM:610759
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Ptosis ORPHA:466722
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardatio... ORPHA:319182
Char Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:46627
Kaufman Oculocerebrofacial Syndrome
Epicanthus, Telecanthus, Neonatal respiratory distress, Sparse eyebrow, Upslanted palpebral fissu... OMIM:244450
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Ptosis ORPHA:2356
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology ORPHA:88619
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Chronic lung disease, Ptosis OMIM:613385
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Hydrocephalus, Shallow orbits, Umbilical hernia, Downslanted palpebral fissures, Ptosis OMIM:182212
Sifrim-Hitz-Weiss Syndrome
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Ptosis OMIM:617159
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Ptosis ORPHA:364028
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... ORPHA:581
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Lagophthalmos, Respiratory insufficiency, Pulmonary arterial hypertension, Downslante... OMIM:254940
Microcephaly-Capillary Malformation Syndrome
Ptosis OMIM:614261
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Abnormal rib morphology, Slender lo... ORPHA:2554
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis ORPHA:531151
Dystonia 34, Myoclonic
Ptosis OMIM:619724
Fetal Akinesia Deformation Sequence 1
Telecanthus, Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta, Blepharophimosis, I... OMIM:208150
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Patent ductus arteriosus, Partial agenesis of the corpus callosum, Mola... ORPHA:434179
Wieacker-Wolff Syndrome, Female-Restricted
Ptosis OMIM:301041
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis OMIM:615911
Noonan Syndrome With Multiple Lentigines
Intrauterine growth retardation, Spina bifida occulta, Ptosis ORPHA:500
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ptosis OMIM:609286
Fibular Hemimelia
Spina bifida ORPHA:93323
Arthrogryposis, Distal, Type 1A
Ptosis OMIM:108120
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:617239
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Downslanted palpebral fissures, Ptosis OMIM:614816
X-Linked Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Ptosis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Ptosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Ptosis ORPHA:98853
Van Maldergem Syndrome 1
Epicanthus, Tracheomalacia, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:601390
Van Maldergem Syndrome 2
Epicanthus, Tracheomalacia, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, ... OMIM:615546
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Keratoconjunctivitis sicca, Hydrocephalus, Thick eyebrow, Ptosis OMIM:616007
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... ORPHA:573278
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis ORPHA:96169
Fanconi Anemia
Ptosis, Epicanthus, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hy... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Ptosis OMIM:617713
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Spina bifida ORPHA:2092
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Respiratory insufficiency due to muscle weakness, Exertional dyspnea, Ptosis ORPHA:436271
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Intellectual Developmental Disorder, Autosomal Recessive 65
Downslanted palpebral fissures, Ptosis OMIM:618109
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Conjunctivitis, Ptosis ORPHA:33001
Duane Retraction Syndrome
Blepharospasm, Blepharophimosis, Spina bifida occulta, Short palpebral fissure, Ptosis ORPHA:233
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis OMIM:618798
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Highly arched eyebrow, Synophrys, Umbilical hernia, Epicanthus inversus, Ptosis OMIM:617062
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt... OMIM:178110
Lathosterolosis
Epicanthus, Myelomeningocele, Downslanted palpebral fissures, Ptosis OMIM:607330
Arthrogryposis, Distal, Type 5D
Ptosis, Highly arched eyebrow, Lagophthalmos OMIM:615065
Combined Oxidative Phosphorylation Deficiency 24
Ptosis OMIM:616239
Koolen-De Vries Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Intrauterine growth retardation, Ptosis OMIM:610443
Phelan-Mcdermid Syndrome
Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis OMIM:606232
Monosomy 13Q14
Intrauterine growth retardation, Epicanthus, Holoprosencephaly, Ptosis ORPHA:1587
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis ORPHA:2824
Arthrogryposis, Distal, Type 3
Epicanthus, Ptosis OMIM:114300
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Goldberg-Shprintzen Syndrome
Telecanthus, Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:609460
Cardiac-Valvular Ehlers-Danlos Syndrome
Dyspnea, Thick eyebrow, Ptosis ORPHA:230851
Autosomal Dominant Optic Atrophy, Classic Form
Ptosis ORPHA:98673
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Wilson Disease
Face of the giant panda sign OMIM:277900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ptosis OMIM:560000
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Combined Oxidative Phosphorylation Deficiency 7
Ptosis OMIM:613559
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Cardiorespiratory arrest, Ptosis OMIM:619424
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Ptosis ORPHA:58
8Q21.11 Microdeletion Syndrome
Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:284160
Refsum Disease, Classic
Ptosis OMIM:266500
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Recurrent pneumonia, Pulmonary arterial hypertension, Downslanted pal... ORPHA:464738
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal epiphysis morphology, A... ORPHA:667
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Highly arched eyebrow, Hypoxemia, Pulmonary arterial hypertension, Intrauterine growth retardatio... ORPHA:2282
Congenital Myopathy 17
Telecanthus, Downslanted palpebral fissures, Respiratory insufficiency, Ptosis OMIM:618975
Isolated Complex I Deficiency
Intrauterine growth retardation, Respiratory insufficiency, Ptosis ORPHA:2609
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Dyspnea, Ptosis OMIM:251900
Koolen-De Vries Syndrome Due To A Point Mutation
Epicanthus, Spina bifida, Tracheomalacia, Hydrocephalus, Upslanted palpebral fissure, Blepharophi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Epicanthus, Spina bifida, Tracheomalacia, Hydrocephalus, Upslanted palpebral fissure, Blepharophi... ORPHA:363958
Cdags Syndrome
Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis OMIM:603116
Lymphedema-Distichiasis Syndrome
Ptosis, Conjunctivitis, Chylothorax, Distichiasis, Ectropion OMIM:153400
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Ptosis OMIM:614230
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Almond-shaped palpebral fissure, Short palpebral fissure, Spina bifida ORPHA:508498
Auriculocondylar Syndrome
Respiratory distress, Ptosis ORPHA:137888
Neurofaciodigitorenal Syndrome
Intrauterine growth retardation, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:2673
Dubowitz Syndrome
Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Intrauterine growth retardation, Short palpebr... OMIM:223370
Aarskog-Scott Syndrome
Downslanted palpebral fissures, Ptosis OMIM:305400
Leigh Syndrome
Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration, Ptosis ORPHA:506
Rubinstein-Taybi Syndrome 1
Respiratory distress, Broad eyebrow, Epicanthus, Spina bifida, Highly arched eyebrow, Nasolacrima... OMIM:180849
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Respiratory insufficiency, Ptosis ORPHA:99956
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis OMIM:613077
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spi... OMIM:267750
Warburg Micro Syndrome 4
Ptosis OMIM:615663
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis OMIM:212112
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Ptosis OMIM:300845
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis ORPHA:257
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ptosis ORPHA:13
Spinocerebellar Ataxia 36
Ptosis OMIM:614153
Spinocerebellar Ataxia Type 36
Ptosis ORPHA:276198
3Mc Syndrome 3
Blepharophimosis, Epicanthus inversus, Highly arched eyebrow, Ptosis OMIM:248340
Noonan Syndrome 10
Epicanthus, Sparse eyebrow, Pleural effusion, Downslanted palpebral fissures, Ptosis OMIM:616564
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:300895
Opitz Gbbb Syndrome
Telecanthus, Stridor, Tracheomalacia, Umbilical hernia, Downslanted palpebral fissures, Recurrent... ORPHA:2745
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis OMIM:604314
Kosaki Overgrowth Syndrome
Xanthelasma, Downslanted palpebral fissures, Ptosis OMIM:616592
Carey-Fineman-Ziter Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:1358
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Ptosis ORPHA:2712
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Ptosis ORPHA:100085
Myasthenia Gravis
Dyspnea, Ptosis ORPHA:589
Machado-Joseph Disease
Ptosis OMIM:109150
Rhyns Syndrome
Ptosis OMIM:602152
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Spina bifida OMIM:274000
Giant Cell Arteritis
Cough, Epistaxis, Ptosis ORPHA:397
Reni Syndrome
Ptosis OMIM:617575
Arboleda-Tham Syndrome
Respiratory distress, Epicanthus, Neonatal respiratory distress, Lacrimal duct stenosis, Highly a... OMIM:616268
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Partial agenesis of the corpus callosum, Spina bifida OMIM:619480
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ptosis, Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Upslanted palpebral fissure, D... OMIM:617506
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormal pattern of respi... ORPHA:220386
Marden-Walker Syndrome
Hydrocephalus, Blepharophimosis, Intrauterine growth retardation, Short palpebral fissure, Ptosis ORPHA:2461
3Mc Syndrome 2
Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis OMIM:265050
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Upslanted palpebral fissure, Telecanthus, Ptosis OMIM:620224
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Trichohepatoneurodevelopmental Syndrome
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Long eyelashes, Ptosis OMIM:618268
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... ORPHA:2908
Pfeiffer Syndrome
Ptosis ORPHA:710
Cornelia De Lange Syndrome 1
Pneumonia, Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Intrauterine growth... OMIM:122470
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Ptosis ORPHA:679
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissure, Narrow pal... OMIM:615873
Oculogastrointestinal Muscular Dystrophy
Ptosis ORPHA:1876
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Synophrys, Umbilical hernia, Downslanted palpebral fissures, Ptosis OMIM:301066
Combined Oxidative Phosphorylation Defect Type 7
Ptosis ORPHA:254930
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Upslanted palpebral fissure, Holoprosencephaly, Epicanthus inversus, Short palpebral ... OMIM:618820
2Q31.1 Microdeletion Syndrome
Epicanthus, Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis ORPHA:251014
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
X-Linked Creatine Transporter Deficiency
Ptosis ORPHA:52503
Rapp-Hodgkin Syndrome
Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis OMIM:129400
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Ptosis ORPHA:521411
Erdheim-Chester Disease
Dyspnea, Xanthelasma, Cough, Pleural effusion, Ptosis ORPHA:35687
Hunter-Macdonald Syndrome
Upslanted palpebral fissure, Blepharophimosis, Umbilical hernia, Short palpebral fissure, Ptosis OMIM:611962
Autosomal Dominant Robinow Syndrome
Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal... ORPHA:3107
Wolfram Syndrome 1
Ptosis OMIM:222300
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Ptosis OMIM:616723
Chromosome 18P Deletion Syndrome
Epicanthus, Ptosis OMIM:146390
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Chronic lung disease, Highly arched eyebrow, Synophrys, Asthma, Long eyelashes, Aspiration pneumo... ORPHA:444077
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis OMIM:105210
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Ptosis, Orthopnea, Respiratory insufficiency due to muscle weakness, Respir... ORPHA:365
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Kabuki Syndrome
Ptosis, Highly arched eyebrow, Hydrocephalus, Long eyelashes, Eversion of lateral third of lower ... ORPHA:2322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Nocturnal hypoventilation, Shallow orbits, Long palpebral fissure, Eversion of... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Nocturnal hypoventilation, Shallow orbits, Long palpebral fissure, Eversion of... ORPHA:352665
Autosomal Recessive Ataxia, Beauce Type
Ptosis ORPHA:88644
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Chronic lung disease, Ptosis ORPHA:228426
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... ORPHA:2526
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Platyspondyly, Abnormal epiphysi... ORPHA:534
Marfan Syndrome
Spontaneous pneumothorax, Cachexia, Meningocele, Emphysema, Slender build ORPHA:558
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Upslanted palpebral fissure, Respiratory failure, Ptosis OMIM:252010
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis OMIM:615453
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Epicanthus, Ptosis OMIM:251300
Chromosome 16P13.3 Duplication Syndrome
Epicanthus, Synophrys, Tracheobronchomalacia, Nasolacrimal duct obstruction, Upslanted palpebral ... OMIM:613458
Wagro Syndrome
Downslanted palpebral fissures, Ptosis OMIM:612469
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim... OMIM:618332
Neuroocular Syndrome
Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L... OMIM:619539
Kearns-Sayre Syndrome
Ptosis OMIM:530000
Charge Syndrome
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Scoliosis, Clinod... ORPHA:138
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Eversion of latera... ORPHA:487796
Intellectual Developmental Disorder, Autosomal Dominant 29
Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis OMIM:616078
Costello Syndrome
Epicanthus, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheom... OMIM:218040
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Long eyelashes, S-shaped palpebral fissures, Ptosis OMIM:201180
Multiple Synostoses Syndrome 1
Upslanted palpebral fissure, Ptosis OMIM:186500
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:616728
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Ptosis OMIM:615510
Saethre-Chotzen Syndrome
Blepharospasm, Epicanthus, Ptosis ORPHA:794
Leopard Syndrome 1
Epicanthus, Spina bifida occulta, Ptosis OMIM:151100
Noonan Syndrome 2
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:605275
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Neural tube defect, Shallow orbits, Umbilical hernia ORPHA:798
Mesomelia-Synostoses Syndrome
Telecanthus, Downslanted palpebral fissures, Short umbilical cord, Ptosis OMIM:600383
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted palpebral fissu... OMIM:616734
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis OMIM:309520
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Recurrent pneumonia, Respiratory insufficiency, Downslanted palpebral fissures, Ptosis OMIM:225400
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilica... OMIM:304120
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Chylothorax, Downslanted palpebral fissures, Ptosis OMIM:613563
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ptosis OMIM:610131
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Telecanthus, Epicanthus, Highly arched eyebrow, Umbilical hernia, Sparse lateral eyebrow, Ptosis OMIM:280000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Ptosis ORPHA:17
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Sparse eyebrow, Synophrys, Ptosis OMIM:309583
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Hooded upper eyelid, Ptosis OMIM:618548
Cerebral Creatine Deficiency Syndrome 1
Ptosis OMIM:300352
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Hydrocephalus, Prominent eyelashes, Long... OMIM:147920
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Angelman Syndrome
Ptosis ORPHA:72
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... OMIM:154500
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ptosis ORPHA:70595
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Epicanthus, Ptosis OMIM:619934
Zygomycosis
Ptosis, Sinusitis, Epistaxis, Pneumothorax, Acute infectious pneumonia, Pleural effusion, Cough, ... ORPHA:73263
Coffin-Siris Syndrome
Prominent eyelashes, Aspiration pneumonia, Intrauterine growth retardation, Thick eyebrow, Ptosis ORPHA:1465
Loeys-Dietz Syndrome 5
Long palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615582
Autosomal Dominant Progressive External Ophthalmoplegia
Exertional dyspnea, Respiratory insufficiency, Ptosis ORPHA:254892
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Respiratory insufficiency, Ptosis OMIM:607459
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Ptosis ORPHA:98907
Monosomy 22Q13.3
Epicanthus, Palpebral edema, Long eyelashes, Umbilical hernia, Thick eyebrow, Ptosis ORPHA:48652
Teebi-Shaltout Syndrome
Telecanthus, Highly arched eyebrow, Ptosis OMIM:272950
Moebius Syndrome
Epicanthus, Blepharitis, Ptosis ORPHA:570
Degcags Syndrome
Abnormal eyebrow morphology, Pneumonia, Abnormal eyelash morphology, Synophrys, Asthma, Pulmonary... OMIM:619488
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Ptosis ORPHA:45358
Myasthenia Gravis
Ptosis OMIM:254200
Orthostatic Hypotension 1
Ptosis OMIM:223360
Combined Oxidative Phosphorylation Deficiency 12
Ptosis OMIM:614924
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:369950
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Intrauterine growth retardation, Patent ductus arteriosus, Abnormal brainstem morphology ORPHA:464311
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:300661
Coffin-Siris Syndrome 4
Intrauterine growth retardation, Long eyelashes, Thick eyebrow, Ptosis OMIM:614609
Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Downslanted palpebral fissures, Respiratory insufficiency, Ptosis ORPHA:536471
Myasthenia, Limb-Girdle, Autoimmune
Ptosis OMIM:159400
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Umbilical hernia, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:1519
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Downslanted palpebral fissures, Epicanthus, Long eyelashes, Ptosis OMIM:607721
Non-Functioning Pituitary Adenoma
Ptosis ORPHA:91349
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Upslanted palpebral fissure, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissure... OMIM:309590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ptosis OMIM:157640
Abetalipoproteinemia
Keratoconjunctivitis sicca, Respiratory failure, Ptosis ORPHA:14
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Ptosis OMIM:609037
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis ORPHA:3217
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
17Q24.2 Microdeletion Syndrome
Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:529962
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis OMIM:615895
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Abnormal rib morpholo... OMIM:214800
Gabriele-De Vries Syndrome
Telecanthus, Lacrimal duct stenosis, Sparse eyebrow, Intrauterine growth retardation, Downslanted... ORPHA:506358
Cohen-Gibson Syndrome
Umbilical hernia, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:617561
Pituitary Apoplexy
Ptosis ORPHA:95613
Glycogen Storage Disease Xii
Epicanthus, Ptosis OMIM:611881
Miller Fisher Syndrome
Ptosis ORPHA:98919
Smith-Lemli-Opitz Syndrome
Epicanthus, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, Ptosis OMIM:270400
Neurofibromatosis-Noonan Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Lisch nodules OMIM:601321
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Ptosis OMIM:615273
Kallmann Syndrome
Ptosis ORPHA:478
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... ORPHA:2363
Coffin-Siris Syndrome 1
Long eyelashes, Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Downslan... OMIM:135900
14Q22Q23 Microdeletion Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:264200
Prolactinoma
Ptosis ORPHA:2965
Acro-Renal-Ocular Syndrome
Epicanthus, Short palpebral fissure, Ptosis ORPHA:959
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Pulmonary arterial hypertension, Ptosis ORPHA:2072
Noonan Syndrome 3
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:609942
Ayme-Gripp Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis OMIM:601088
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Ptosis ORPHA:3474
Pachydermoperiostosis
Ptosis ORPHA:2796
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Apnea, Keratoconjunctivitis sicca, Umbilical hernia, Ptosis ORPHA:285
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Intrauterine growth retardation, Epicanthus, Short palpebral fissure, Ptosis OMIM:617157
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Highly arched eyebrow, Trichiasis, Asthma, Nasolacrimal duct obstruction, Aspiration, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Highly arched eyebrow, Trichiasis, Asthma, Nasolacrimal duct obstruction, Aspiration, ... ORPHA:353277
Faciocardiomelic Syndrome
Telecanthus, Short eyelashes, Ptosis OMIM:612731
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Emphysema, Bronchiectasis, Ptosis ORPHA:90348
Cornelia De Lange Syndrome
Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Intrauterine growth retardatio... ORPHA:199
Codas Syndrome
Ptosis OMIM:600373
Multiple System Atrophy 1, Susceptibility To
Ptosis OMIM:146500
Aniridia 1
Bilateral ptosis, Ptosis OMIM:106210
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ptosis OMIM:603041
Microphthalmia, Syndromic 2
Laterally curved eyebrow, Blepharophimosis, Umbilical hernia, Thick eyebrow, Ptosis OMIM:300166
Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:648
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Ptosis ORPHA:1969
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis OMIM:146255
Branchiooculofacial Syndrome
Telecanthus, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Branchial anomaly, Intra... OMIM:113620
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Ptosis OMIM:124000
Aicardi-Goutières Syndrome
Eyelid coloboma, Ptosis ORPHA:51
Peters-Plus Syndrome
Hydrocephalus, Upslanted palpebral fissure, Narrow palpebral fissure, Umbilical hernia, Intrauter... OMIM:261540
Viss Syndrome
Ptosis, Dyspnea, Asthma, Pneumothorax, Pulmonary arterial hypertension, Long palpebral fissure, U... OMIM:619472
Proteus Syndrome
Pulmonary embolism, Retinal hamartoma, Sirenomelia, Downslanted palpebral fissures, Ptosis ORPHA:744
Noonan Syndrome 1
Epicanthus, Downslanted palpebral fissures, Chylothorax, Ptosis OMIM:163950
Turner Syndrome Due To Structural X Chromosome Anomalies
Intrauterine growth retardation, Epicanthus, Neck pterygia, Ptosis ORPHA:99413
Mosaic Monosomy X
Intrauterine growth retardation, Epicanthus, Neck pterygia, Ptosis ORPHA:99228
Monosomy X
Intrauterine growth retardation, Epicanthus, Neck pterygia, Ptosis ORPHA:99226
Turner Syndrome
Intrauterine growth retardation, Epicanthus, Neck pterygia, Ptosis ORPHA:881
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Absent eyelashes, Neonatal death, Umbilical hernia, Ptosis OMIM:308205
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Scoliosis, Six lumbar vertebrae OMIM:312870
Diamond-Blackfan Anemia
Epicanthus, Ptosis ORPHA:124
Tsh-Secreting Pituitary Adenoma
Ptosis ORPHA:91347
Kawasaki Disease
Conjunctivitis, Ptosis ORPHA:2331
Vascular Ehlers-Danlos Syndrome
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Pneumothorax, Re... ORPHA:286
Craniofacial Microsomia 1
Occipital encephalocele, Blepharophimosis, Hydrocephalus, Upper eyelid coloboma, Branchial anomal... OMIM:164210
Pearson Syndrome
Ptosis ORPHA:699
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Ptosis OMIM:614231
Phace Syndrome
Abnormality of the orbital region, Ptosis ORPHA:42775
Pallister-Killian Syndrome
Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hyperventilation, Upslanted palpebral ... OMIM:601803
Okamoto Syndrome
Long palpebral fissure, Ptosis ORPHA:2729
Saethre-Chotzen Syndrome
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits OMIM:101400
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Thick eyebrow, Ptosis OMIM:150230
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Ptosis OMIM:161700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ptosis OMIM:618748
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:309580
Mowat-Wilson Syndrome
Downslanted palpebral fissures, Broad eyebrow, Ptosis OMIM:235730
Primrose Syndrome
Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis OMIM:259050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Epicanthus, Telecanthus, Highly arched eyebrow, Broad eyebrow, Ptosis ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Broad eyebrow, Ptosis ORPHA:261537
Singleton-Merten Syndrome 1
Pleural effusion, Ptosis OMIM:182250
Microphthalmia, Syndromic 1
Ptosis OMIM:309800

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 Kat2a

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 Kat2a.

No publications found that use IMPC mice or data for Kat2a.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Kat2atm43942(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kat2atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kat2atm43942(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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