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Gene: Rps7 MGI:1333818

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ribosomal protein S7

Synonyms:

S7, Mtu

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 Rps7 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.

Human diseases associated with Rps7 (2 diseases)
Human diseases predicted to be associated with Rps7 (824 diseases)

The table below shows human diseases associated to Rps7 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diamond-Blackfan Anemia 8		Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Diamond-Blackfan Anemia		Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Low anterior hai...	ORPHA:124

The table below shows human diseases predicted to be associated to Rps7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od...	OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Synophrys, Abnormality of the elbow, Abnormal rib morphology, D...	ORPHA:3268
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D...	OMIM:122600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Patent ductus arteriosus, Short thorax, Short ...	OMIM:618845
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Diaphanospondylodysostosis	Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab...	ORPHA:66637
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Low posterior hair...	ORPHA:2345
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Verheij Syndrome	Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Optic nerve hypoplasia, Short neck...	OMIM:615583
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec...	OMIM:613686
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short stature, Abnormal hair pattern, Shor...	ORPHA:2332
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Iron deficiency anemia, Reduced bone mine...	ORPHA:93315
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Agenesis of corpus callosum, Microphthalmia, Arthrogryposis multiplex congeni...	OMIM:616570
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis...	ORPHA:1354
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss...	ORPHA:337
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Melanocytic ne...	ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phala...	OMIM:300863
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Thoracic scoliosis, Short stature, Periventricular heterotopia, Partial agenesis of the corpus ca...	OMIM:616171
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Missi...	OMIM:206900
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o...	ORPHA:1617
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Overlapping toe, Short stature, Kyphoscoliosis, Perisylvian polymicrogy...	OMIM:600118
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Scol...	ORPHA:1445
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Pectus excavatu...	ORPHA:2522
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn...	ORPHA:1801
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c...	OMIM:178110
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Aicardi Syndrome	Abnormality of retinal pigmentation, Ventriculomegaly, Block vertebrae, Missing ribs, Partial age...	ORPHA:50
Baraitser-Winter Syndrome 2	Short stature, Highly arched eyebrow, Short neck, Coloboma, Lissencephaly, Microphthalmia, Pachyg...	OMIM:614583
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Prominent metopic ridge, Short stature, Ca...	ORPHA:1466
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing...	ORPHA:1436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scolio...	OMIM:606612
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin...	OMIM:109400
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of the 5th finger,...	OMIM:244600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Abnormal vertebral morphology, Anophthalmia, Patent ductus arteriosus, Hydrocep...	ORPHA:77298
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin...	ORPHA:313892
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Long eyelashes, Scoliosis, Microp...	ORPHA:48431
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Short stature,...	OMIM:169550
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Short stature, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia...	ORPHA:163966
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Bresek Syndrome	Alopecia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, Growt...	ORPHA:85284
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Limitation of joint mobility, Osteoarthritis, Abnormal joint morphology, Short ...	ORPHA:93351
Aarskog-Scott Syndrome	Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, Pectus ex...	ORPHA:915
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral...	OMIM:214300
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx...	ORPHA:2839
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Scoliosis, Neu...	ORPHA:2169
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus, Irregular ...	ORPHA:2435
Aicardi Syndrome	Proximal placement of thumb, Partial agenesis of the corpus callosum, Hemivertebrae, Dilated thir...	OMIM:304050
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Gombo Syndrome	Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Low posterior hairline, Scoliosis, Cervical C2/C3 vertebral ...	OMIM:118100
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver...	ORPHA:2916
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Hypoplastic thumbnail, Bifid distal phalanx of the thumb, Hypoplast...	ORPHA:370010
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Severe short stature, Highly arched eyebrow, Short t...	ORPHA:2319
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short ...	ORPHA:1797
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th...	ORPHA:628
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:300915
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,...	OMIM:309620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus, Low anterior hairline, Simplified gyr...	OMIM:613153
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Short neck, Absent thumb, Short thumb, Hypoplasia of the r...	OMIM:609053
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Colpocephaly, Increased...	ORPHA:261250
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretina...	ORPHA:959
Cat-Eye Syndrome	Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Ir...	ORPHA:195
Pierpont Syndrome	Joint laxity, Abnormal cortical gyration, Short neck, Short toe, Short finger, Scoliosis, Promine...	ORPHA:487825
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus...	OMIM:259440
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Congenital hip dislocation, Abnormal thorax morphology, Orbital encephalo...	OMIM:164180
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Coxa valga, Abnormality of th...	ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Flexion contracture, Coloboma, Lissencephaly, Scoliosis, M...	OMIM:615249
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Cerebrooculofacioskeletal Syndrome 1	Ventriculomegaly, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Flexion contracture, Elbow flex...	OMIM:214150
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Iris hypopigmentation, Short stature, V...	OMIM:610443
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert...	OMIM:108720
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Synophrys, Hemivertebrae, Low anterior hairl...	OMIM:213980
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disproportionate short-trunk short sta...	OMIM:608681
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of...	OMIM:271650
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Cerebrooculofacioskeletal Syndrome 4	Simplified gyral pattern, Knee flexion contracture, Death in childhood, Wrist flexion contracture...	OMIM:610758
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thrombocytopenia, Death in adolescence, Short long bone, Stillbirth, Sc...	OMIM:619751
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the l...	ORPHA:85194
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Progressive neurologic deterioration, Silver-gray hai...	OMIM:607624
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular r...	ORPHA:168555
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Short stature, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos,...	OMIM:619318
Baraitser-Winter Syndrome 1	Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Duplication of ph...	OMIM:243310
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Growth delay, Agenesis of corpus callosum	OMIM:274270
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Thin ribs...	OMIM:614833
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Postnatal growth retardation, Ul...	OMIM:619135
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Generalized joint laxity, Coloboma, Thoracic kyphosis, Hypermobil...	ORPHA:508498
Lateral Meningocele Syndrome	Vertebral fusion, Short stature, Short neck, Pectus excavatum, Kyphosis, Patent ductus arteriosus...	OMIM:130720
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Short stature, Abnormality of hair te...	ORPHA:96169
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopig...	ORPHA:2786
Frontometaphyseal Dysplasia 1	Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist...	OMIM:305620
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Nail pits, Reticular hyperpigmentation, Anemia, Leukopeni...	OMIM:127550
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of...	OMIM:608728
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Short stature, K...	ORPHA:35173
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Short neck, Abnorm...	ORPHA:233
Thanatophoric Dysplasia, Type Ii	Ventriculomegaly, Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral j...	OMIM:187601
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Lissencephaly, Mic...	ORPHA:1528
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Squared iliac b...	OMIM:618000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d...	OMIM:618395
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Short stature, Short thorax, Osteolysis involving bones of the upper limbs,...	ORPHA:88630
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Pa...	OMIM:617190
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Hyperconvex fingernails, Intrauterine growth retardation, ...	OMIM:194190
Kahrizi Syndrome	Short stature, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma	OMIM:612713
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho...	OMIM:250250
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Hyperlordo...	OMIM:184250
Hypomelanosis Of Ito	Syndactyly, Alopecia, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Gray matter h...	OMIM:300337
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, ...	OMIM:616549
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Femoral-Facial Syndrome	Short femur, Short stature, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa...	ORPHA:1988
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Hemivertebrae, Sparse hair, Dandy-Walker malformation, Rhizomelia, Sparse eyebrow, Ab...	OMIM:302960
Kbg Syndrome	Vertebral fusion, Syndactyly, Short stature, Short neck, Synophrys, Delayed skeletal maturation, ...	OMIM:148050
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Hydrocephalus, Abnormal rib m...	ORPHA:3301
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology...	ORPHA:1486
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs...	OMIM:271520
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Sho...	OMIM:139210
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Lumbar hyperlordosis, Optic ...	ORPHA:370959
Joint Laxity, Short Stature, And Myopia	Short stature, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, C...	OMIM:617662
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Growth delay, Death in childhood, Sp...	OMIM:610756
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Co...	ORPHA:251014
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ...	OMIM:268310
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Widow's peak, Anterior basal encephalocele, Coloboma, Radial deviatio...	OMIM:136760
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Abnormal rib morphology, Low posterior hairline, Vertebral segmentatio...	ORPHA:2578
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Rhizomelia, Dumbbell-...	OMIM:151210
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpi...	ORPHA:1724
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Ventriculomegaly, Reduced b...	ORPHA:2611
Kapur-Toriello Syndrome	Camptodactyly of finger, Short neck, Short thumb, Patent ductus arteriosus, Polymicrogyria, Low p...	OMIM:244300
Thanatophoric Dysplasia, Type I	Short neck, Femoral bowing, Narrow chest, Neonatal death, Small abnormally formed scapulae, Wide-...	OMIM:187600
Cousin Syndrome	Short neck, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodact...	OMIM:260660
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Low posterior hairline, Short neck	ORPHA:3456
Biemond Syndrome Type 2	Short stature, Hydrocephalus, Preaxial polydactyly, Coloboma, Delayed puberty, Microphthalmia	ORPHA:141333
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Trisomy 13	Anophthalmia, Abnormal eyelash morphology, Kyphosis, Postaxial hand polydactyly, Patent ductus ar...	ORPHA:3378
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral...	ORPHA:2234
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Adams-Oliver Syndrome 4	Hypoplastic toenails, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd toe, ...	OMIM:615297
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Splenomegaly, Periostitis, Osteolysis, Fused cervical ve...	OMIM:612852
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Short stature, Short neck, Metatarsus va...	ORPHA:3082
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Coloboma, Microphthalmia, Type II lisse...	ORPHA:324416
White Forelock With Malformations	Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ...	ORPHA:2475
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Partial agenesis of the corpus callosum, Subcorti...	OMIM:615771
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Sc...	ORPHA:530983
Microcephaly-Micromelia Syndrome	Craniosynostosis, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Pierpont Syndrome	Short stature, Short neck, Short toe, Short foot, Scoliosis, Short palm, Prominent fingertip pads...	OMIM:602342
3M Syndrome	Congenital hip dislocation, Hypoplastic ischia, Short neck, Increased vertebral height, Enlarged ...	ORPHA:2616
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo...	OMIM:617405
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Ventriculomegaly, Broad hallux, Tapered finger, Pectus excavatum, Long fingers, Sh...	OMIM:618659
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Growth delay, Neutropenia, Multiple cafe-au-lait spots, Microp...	OMIM:614082
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue...	OMIM:193500
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Cohen Syndrome	Low anterior hairline, Abnormality of skin pigmentation, Neutropenia, Clinodactyly of the 5th fin...	ORPHA:193
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Postaxial polydactyly	OMIM:613094
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ...	ORPHA:3027
Ritscher-Schinzel Syndrome 1	Syndactyly, Missing ribs, Hydrocephalus, Hemivertebrae, Low posterior hairline, Coloboma, Intraut...	OMIM:220210
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad...	OMIM:120400
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Delayed cranial suture closur...	ORPHA:2484
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2180
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short...	ORPHA:2311
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Lissencephaly, Microphthalmia, A...	OMIM:218670
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys...	OMIM:300232
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, ...	ORPHA:582
Cantú Syndrome	Short neck, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, Broad ribs, Gen...	ORPHA:1517
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Short stature, Recurr...	ORPHA:2050
Temtamy Syndrome	Short toe, Genu varum, Joint hyperflexibility, Chorioretinal coloboma, Clinodactyly of the 5th fi...	ORPHA:1777
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia	OMIM:612562
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Gracile Bone Dysplasia	Death in infancy, Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Slender l...	OMIM:602361
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra...	OMIM:615220
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Macular hypoplasia, Lissencephaly, Iris ...	ORPHA:2185
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,...	OMIM:617333
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Abnormal rib morphology, Narrow chest, Aplasia/Hypoplasia af...	ORPHA:1703
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Pectus excavatum, Cubitus valgus, Knee flexion contracture, Gray matter h...	OMIM:619694
Curry-Jones Syndrome	Bicoronal synostosis, Ventriculomegaly, Wormian bones, Occipital meningocele, Duplication of thum...	OMIM:601707
Marden-Walker Syndrome	Arachnodactyly, Short neck, Postnatal growth retardation, Kyphosis, Abnormal sternum morphology, ...	OMIM:248700
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Martsolf Syndrome 1	Enlarged sylvian cistern, Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Pectus ...	OMIM:212720
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Leukemia, Polymicrogyria, V...	OMIM:602501
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Prominent metopic ridge, Rocker bottom foot, Highly arched eyebrow, S...	OMIM:618804
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Sple...	ORPHA:3035
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Optic disc hypoplasia, Absent thum...	OMIM:607323
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlor...	ORPHA:568
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Abnormal rib morphology, Abnormality of neuronal migration, Joint hyperflexi...	ORPHA:2772
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Vertebral segmentation d...	ORPHA:373
Achondrogenesis Type 1B	Severe short stature, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib mo...	ORPHA:93298
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse h...	OMIM:252900
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Microphthalmia, Abnormal vertebral morphology	ORPHA:261272
Kapur-Toriello Syndrome	Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Polymicrogyria, Retinal colobom...	ORPHA:2328
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Ventriculomegaly, Spinal rigidity, Hydrocephalus, Buphthalmos, C...	OMIM:613150
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Abnormal cortical bone morphology, Ab...	ORPHA:2097
Rere-Related Neurodevelopmental Syndrome	Ventriculomegaly, Postnatal growth retardation, Hip dysplasia, Scoliosis, Chorioretinal coloboma,...	ORPHA:494344
Spondyloepimetaphyseal Dysplasia, Shohat Type	Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Cartilage-Hair Hypoplasia	Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v...	ORPHA:175
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab...	ORPHA:2876
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu...	ORPHA:1120
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Cafe-au-lait spot, ...	OMIM:615234
Linear Nevus Sebaceus Syndrome	Alopecia, Ventriculomegaly, Genu recurvatum, Melanocytic nevus, Growth delay, Vertebral segmentat...	ORPHA:2612
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Perisylvian polymicrogyria, Abnormal vertebral morphology, Ethmoidal enc...	ORPHA:280195
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Pectus excavatum, Low posterior hairline, Fused cervical vertebrae, Cafe-au-lait s...	OMIM:619227
Temtamy Syndrome	Highly arched eyebrow, Hip dislocation, Short 2nd toe, Chorioretinal coloboma, Microphthalmia, Ag...	OMIM:218340
Greenberg Dysplasia	Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel...	OMIM:215140
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot...	OMIM:206920
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Short neck, Abnormal hair morphology, Abnormal thorax morphology, Short foot, Growth delay, Hip d...	OMIM:601427
Sifrim-Hitz-Weiss Syndrome	Short stature, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Fused cervical ver...	OMIM:617159
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Patent ductus arteriosus, Hydrocephalus, Sho...	ORPHA:250989
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, 2-3 to...	OMIM:264480
Jeune Syndrome	Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Short stature,...	ORPHA:474
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Short stature, R...	OMIM:616229
Srd5A3-Cdg	Optic disc hypoplasia, Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sacrum mor...	ORPHA:324737
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han...	OMIM:200600
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Remnants of ...	OMIM:614643
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Cubitus valgus, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly,...	ORPHA:2712
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C...	ORPHA:79345
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Short stature, Rhizome...	OMIM:611209
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, Hypoplastic sacr...	OMIM:105650
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,...	OMIM:224300
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis mo...	ORPHA:2643
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Anemia, Growth delay, Scoliosis, Microphthalmia, Radial dysplasia	OMIM:617244
Becker Nevus Syndrome	Hypermelanotic macule, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morpholog...	ORPHA:64755
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Iris atrophy, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis...	OMIM:259770
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Low anterior hai...	ORPHA:124
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Ventriculomegaly, Hydrocephalus, Anemia, Microphthalmia, Thr...	ORPHA:858
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Polydactyly, Narrow chest, Micr...	OMIM:613885
Stevenson-Carey Syndrome	Coloboma, Hip dysplasia, Scoliosis, Camptodactyly, Microphthalmia, Joint contracture of the hand	OMIM:611961
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar ver...	OMIM:252930
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of ...	ORPHA:73230
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Down-sloping shoulders, Proportionate short stature, Pectus excavat...	OMIM:227330
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Low posterior hairline, En...	ORPHA:1598
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Spinal canal stenosis, Advanced ossification of carpal bones,...	OMIM:614613
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Ventriculomegaly, Short femur, Fractured radius, Beaded ribs,...	OMIM:616897
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Frontometaphyseal Dysplasia	Limited elbow movement, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Spina bifida oc...	ORPHA:1826
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m...	ORPHA:1488
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of...	ORPHA:3265
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Thrombocytopenia-Absent Radius Syndrome	Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing...	OMIM:274000
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Severe short stature, Short neck, Joint stiffness, Splenomegaly...	OMIM:230500
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o...	OMIM:619636
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,...	ORPHA:2788
Micro Syndrome	Abnormality of retinal pigmentation, Short stature, Joint stiffness, Kyphosis, Retinal coloboma, ...	ORPHA:2510
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Ovoid thoracolumbar vertebrae, Coarse h...	OMIM:252920
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Recurrent fractures, Short neck, Abnormal enchondra...	ORPHA:93299
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Supernumerary nipple, Pectus excavatum, Widow's peak, Supernumerary ribs, Six l...	OMIM:619122
Cerebrofaciothoracic Dysplasia	Ventriculomegaly, Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Rib...	ORPHA:1394
Fibrochondrogenesis	Hypoplastic fingernail, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Short neck,...	ORPHA:2021
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia, Abnormality of the vertebral column, Neural tube defect	OMIM:600776
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Joint stiffness, Pectus excavatum,...	ORPHA:3242
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Narrow chest, Death in c...	OMIM:613848
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis, Short stature	OMIM:302905
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Pectus excavatum, Short neck, Microphthalmia, Intrauterine growth ret...	ORPHA:1438
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ...	ORPHA:85184
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis,...	OMIM:616294
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
3C Syndrome	Finger syndactyly, Hypoplastic fingernail, Death in infancy, Short stature, Ventriculomegaly, Mis...	ORPHA:7
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab...	ORPHA:666
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Short stature, Splenomegaly, Patent ductus arteriosus, Anemi...	ORPHA:290
Mosaic Trisomy 1	Thoracic scoliosis, Hypoplastic thumbnail, Finger clinodactyly, Absent distal interphalangeal cre...	ORPHA:1692
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Ab...	ORPHA:94065
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Microphthal...	OMIM:615665
Cleidocranial Dysplasia	Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:1452
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Hydrocephalus, Bifid thoracic vertebrae, Foot polydactyly, Chorioretinal co...	ORPHA:268249
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Sparse hair,...	OMIM:619185
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb...	ORPHA:2759
Shwachman-Diamond Syndrome 1	Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co...	OMIM:260400
Adams-Oliver Syndrome 2	Alopecia, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Absent distal phala...	OMIM:614219
Warburg Micro Syndrome 3	Kyphoscoliosis, Postnatal growth retardation, Flexion contracture, Low anterior hairline, Ankle c...	OMIM:614222
Moebius Syndrome	Syndactyly, Brachydactyly, Short neck, Split hand, Abnormal pelvic girdle bone morphology, Arthro...	OMIM:157900
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Scoliosis, Microphthalmia, Synostosis of carpal bones	ORPHA:3191
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl...	ORPHA:3258
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Mosaic Trisomy 9	Ventriculomegaly, Rocker bottom foot, Camptodactyly of finger, Short neck, Asplenia, Elbow disloc...	ORPHA:99776
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Hy...	ORPHA:96061
Abruzzo-Erickson Syndrome	Toe syndactyly, Short stature, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synosto...	ORPHA:921
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Synophrys, Low anterior hairline, Pectus carinatum, Lumba...	OMIM:617796
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Short stature, Hyperlordosis, Delayed skeletal maturation, Limitation ...	ORPHA:3068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Ventriculomegaly, Type II lissencephaly	OMIM:614830
Hallermann-Streiff Syndrome	Metaphyseal widening, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina bifida, Hyperlord...	OMIM:234100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Short stature, Supernumerary nipple, Pectus excavatum, Sparse eyebrow, 3-4 finger cut...	OMIM:612530
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Short stature, Highly arched eyebrow, Nail dystrophy, Microphthalmia, Agenesis of cor...	OMIM:300887
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Walker-Warburg Syndrome	Ventriculomegaly, Anophthalmia, Abnormal cortical gyration, Polymicrogyria, Hydrocephalus, Abnorm...	ORPHA:899
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Short neck, Progressive intervert...	ORPHA:1716
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft ver...	OMIM:620076
Fetal Alcohol Syndrome	Short stature, Joint stiffness, Vertebral segmentation defect, Microphthalmia, Generalized hirsut...	ORPHA:1915
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Short stature, Camptodactyly of finger, Short nec...	ORPHA:93473
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Pectus excavatum, Synophrys, Patent ductus arteriosus, Low anterior hairli...	ORPHA:329224
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis...	ORPHA:1780
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Anencephaly, Abnormal form of the ...	ORPHA:1590
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Lateral ventricle dilatation, Umbilical hernia, Jo...	OMIM:618914
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Finger clinodactyly, ...	ORPHA:391474
Joubert Syndrome With Ocular Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Agenesis of corpus callosum, Hand polydactyl...	ORPHA:220493
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Chorior...	ORPHA:139471
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Short stature	OMIM:618295
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Ventricu...	ORPHA:1647
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Short stature, Coloboma, Iris transillumination defect, Osteopetr...	OMIM:617306
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera...	ORPHA:2911
Focal Dermal Hypoplasia	Abnormality of skin pigmentation, Hypoplasia of the iris, Chorioretinal coloboma, Abnormality of ...	ORPHA:2092
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Short stature, Short neck, Pectus excavatum, Retinal coloboma, Horizontal eyebro...	OMIM:618571
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short stature, Severe short stature, Hyperlordosis, Short...	OMIM:612921
Incontinentia Pigmenti	Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bifida occulta, Abnormality ...	ORPHA:464
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Abnormally large globe, Cubitus valgus, ...	OMIM:269300
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology...	OMIM:163200
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormality of the spleen, Hydr...	ORPHA:1834
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Fanconi Anemia, Complementation Group C	Pancytopenia, Hyperpigmentation of the skin, Short stature, Absent thumb, Absent radius, Short th...	OMIM:227645
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, Sparse hair, Microphthalmia, Agenesis ...	OMIM:616449
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Anophthalmia, Os...	OMIM:305600
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Deviation of finger, Vertebral segmentation defect, Iris coloboma	ORPHA:1104
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla...	OMIM:244460
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,...	ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Spinal rigidity, Hydrocephalus, Flexion contracture, Lissencephaly, Scolio...	OMIM:253800
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge...	OMIM:151050
Lissencephaly 8	Occipital encephalocele, Ventriculomegaly, Microphthalmia, Polymicrogyria, Agyria, Type II lissen...	OMIM:617255
Jacobsen Syndrome	Missing ribs, Pectus excavatum, Short neck, Abnormal eyelash morphology, Flexion contracture, Hyd...	OMIM:147791
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Short stature, Simplified gyral pattern, Abnormality of skin...	OMIM:251270
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho...	ORPHA:1318
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Overlapping toe, Sparse eyebrow, Kyphosis, Microphthalmia, ...	ORPHA:464738
3Q29 Microdeletion Syndrome	Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Abnormality of skin...	ORPHA:65286
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp...	ORPHA:436
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax...	ORPHA:435638
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Cervical C5/C6...	ORPHA:87
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Wormian bones, Recurrent fractures, Hyperextensibility of the knee, Delayed skelet...	OMIM:601812
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Disproportionate short...	OMIM:619698
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Abnormality of skin pigmentation, Coloboma, Microphthalmia, Polymicrogyria, Hy...	OMIM:612379
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Broad hallux, Periventricular heterotopia, Retinal pigment epithelial mottling, Lateral ventricle...	OMIM:614105
Schwartz-Jampel Syndrome	Short neck, Low anterior hairline, Coxa vara, Pectus carinatum, Wrist flexion contracture, Genera...	ORPHA:800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Ca...	ORPHA:300298
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Fine hair, Microphthalmia, Coronal craniosynostosis, Agenesis of corpus ...	ORPHA:228390
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P...	OMIM:224690
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature...	OMIM:146510
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Short stature, Short neck, Pectus excavatum, Patent ductus arteriosus, Optic disc coloboma, Scoli...	ORPHA:52055
Hartsfield Syndrome	Encephalocele, Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, In...	ORPHA:2117
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicoronal synosto...	OMIM:616300
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Hip dysplasia, Scoliosis, Prominent fingertip pads, Overlapping fingers, Polymic...	OMIM:618494
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,...	ORPHA:93324
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Iris coloboma, Dislocated radial head, Joint laxity, Short sta...	OMIM:102500
Chops Syndrome	Curly hair, Short stature, Thick hair, Splenomegaly, Synophrys, Patent ductus arteriosus, Coarse ...	OMIM:616368
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis...	ORPHA:583
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Thick eyebrow, Elbow contracture, ...	OMIM:617137
Triploidy	Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Decreased skull ossification, Narrow c...	ORPHA:3376
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Hydrocephalus, Abnormal ...	ORPHA:77301
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Pectus exca...	OMIM:263750
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joi...	ORPHA:536471
Trichothiodystrophy	Ridged nail, Joint dislocation, Osteopenia, Brittle hair, Multiple joint contractures, Partial ag...	ORPHA:33364
Momo Syndrome	Short stature, Hyperconvex nail, Short neck, Bilateral microphthalmos, Femoral bowing, Short ster...	ORPHA:2563
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Partial agenesis of th...	OMIM:234050
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Hypoplastic toenails, Prea...	ORPHA:261344
Joubert Syndrome 23	Coloboma, Dysplastic corpus callosum, Polydactyly	OMIM:616490
Fanconi Anemia, Complementation Group F	Sacral dimple, Hyperpigmentation of the skin, Short stature, Absent thumb, Short thumb, Patent du...	OMIM:603467
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Scoliosis	OMIM:601357
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Joubert Syndrome	Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormality of neuronal migration, Abnormal ...	ORPHA:475
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Short stature, Kyphoscoliosis, Missing ribs,...	ORPHA:97360
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic...	OMIM:617925
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Multiple cafe-au-lait spots, Microphthalmia, Intrauter...	OMIM:609054
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact...	OMIM:613091
Alagille Syndrome	Hypoplasia of the ulna, Abnormal pupil morphology, Delayed skeletal maturation, Abnormal rib morp...	ORPHA:52
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Pectus e...	ORPHA:2789
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Supernumerary nipple, Sparse eyebrow, Synophrys, 2-3 toe syndactyly, Joint contract...	OMIM:620098
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Supernumerary nipple, Tapered finger, Abnormal thorax morphology, Scolio...	ORPHA:1236
Joubert Syndrome With Renal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Hand polydactyly, Scoliosis, Polymicrogyria,...	ORPHA:220497
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Synophrys, Low anterior hairline, Bone pain, Pectus carinatum, Coarse hai...	ORPHA:955
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature	OMIM:601076
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Aniridia, Camptodactyly of toe, Microph...	ORPHA:251038
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia...	ORPHA:3412
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1473
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Blotching p...	OMIM:601559
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Abnormal rib morphology, ...	ORPHA:2970
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Kyphosis, Low anterior hairline, 2-3 toe syndactyly...	ORPHA:404440
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Limitation of joint mobility, Symphalangism af...	ORPHA:2547
Teebi-Shaltout Syndrome	Syndactyly, Slow-growing hair, Rocker bottom foot, Highly arched eyebrow, Short stature, Pectus e...	OMIM:272950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Short stature, Short neck, Bilateral microphthalmos, Low anterior hairline, Arthrogry...	ORPHA:369891
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb...	OMIM:614008
Coach Syndrome 2	Coloboma, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma	OMIM:619111
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Synophrys, Delayed skeletal ma...	ORPHA:2463
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Short neck, Postnatal gr...	ORPHA:251028
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Wide cranial sutures, ...	OMIM:610682
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Split hand, Abnormal rib morphology, Intraute...	ORPHA:2145
Fanconi Anemia, Complementation Group S	Short stature, Proximal placement of thumb, Low anterior hairline, Long eyelashes, Sparse hair, M...	OMIM:617883
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Prominent metopic ridge, Overlapping toe, Short stature, Tapered finger, Short thu...	OMIM:619148
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Microphthalmia, Ventriculomegaly	OMIM:613730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Hydrocephalus, Flexion contracture	OMIM:613155
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231214
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retar...	ORPHA:83617
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, Narrow chest, Broad ribs, Joi...	OMIM:304150
Joubert Syndrome With Oculorenal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormality of neuronal migration, Hand poly...	ORPHA:2318
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Coloboma, Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Monosomy 9P	Thin nail, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Highly arche...	ORPHA:261112
Neu-Laxova Syndrome 1	Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus callosum, Dan...	OMIM:256520
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ...	ORPHA:1506
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o...	ORPHA:2215
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Iris ...	ORPHA:2308
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Holoprosencephaly	Anophthalmia, Short neck, Abnormality of the spleen, Synophrys, Abnormal form of the vertebral bo...	ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypopla...	OMIM:236670
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri...	OMIM:271665
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m...	ORPHA:95699
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Patellar hypoplasia, Coloboma, Brachydactyly	ORPHA:464288
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Sp...	ORPHA:974
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short stature, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Patent ductus arteriosus, O...	OMIM:300472
Fryns Syndrome	Dandy-Walker malformation, Rocker bottom foot, Proximal placement of thumb, Short neck, Short thu...	OMIM:229850
Acrorenal-Mandibular Syndrome	Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe syndactyly, Abse...	OMIM:200980
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Prominent metopic ridge, Severe short stature, Multiple joint contractures...	ORPHA:468631
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Short stature, Pectus excavatum, Sparse eyebrow, Polymicrogyria, Unilateral mic...	OMIM:618874
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo...	OMIM:602196
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Polymicrogyria, Type II lissencephaly	OMIM:615181
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmentation, Leukop...	ORPHA:84
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Abno...	ORPHA:280
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Short stature, Ectrodactyly, Delayed puberty, Clinodactyly, Agenesis of corpus callos...	OMIM:147950
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Congenital hip dislocation, Sparse eyelashes, Sparse scalp hair, Kyphos...	OMIM:268400
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Short stature, Flexion contracture, Fine hair, Fra...	OMIM:601675
Joubert Syndrome 14	Encephalocele, Highly arched eyebrow, Postaxial polydactyly, Hydrocephalus, Meningocele, Growth d...	OMIM:614424
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Arnold-Chiari Malformation Type I	Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant...	ORPHA:268882
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co...	OMIM:615219
Pontocerebellar Hypoplasia, Type 11	Coloboma, Agenesis of corpus callosum, Short stature	OMIM:617695
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Sp...	OMIM:612301
Ohdo Syndrome, X-Linked	Overlapping toe, Sparse eyebrow, Short thumb, High anterior hairline, Hip dysplasia, Narrow chest...	OMIM:300895
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Microphthalm...	OMIM:617914
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi...	ORPHA:96334
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Ventriculomegaly	OMIM:308350
Cockayne Syndrome B	Dry hair, Severe short stature, Abnormal hair morphology, Splenomegaly, Kyphosis, Postnatal growt...	OMIM:133540
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Patent ductus arteriosus, Anemi...	OMIM:620185
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventriculomegaly, Lumbar hyperlordosis, Short stature, Widow's peak, Patent ductus ar...	OMIM:616975
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Postnatal growth retardation, Delayed skeletal maturation, Small hand, Sho...	OMIM:241410
Joubert Syndrome 16	Encephalocele, Coloboma, Polydactyly, Dandy-Walker malformation	OMIM:614465
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Sho...	OMIM:269860
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne...	OMIM:277600
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Broad long bones, Sparse eyelashes, Short stature, Fifth finger distal phal...	OMIM:257850
Meckel Syndrome, Type 1	Occipital encephalocele, Short neck, Asplenia, Agenesis of corpus callosum, Iris coloboma, Dandy-...	OMIM:249000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-sha...	OMIM:157800
Trisomy 18	Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Spina bifida, Postax...	ORPHA:3380
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P...	OMIM:114290
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos	ORPHA:77299
Oculocerebrorenal Syndrome Of Lowe	Abnormal pupil morphology, Death in infancy, Short stature, Osteomalacia, Abnormal rib morphology...	ORPHA:534
Bartsocas-Papas Syndrome 1	Short neck, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Synd...	OMIM:263650
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Coloboma, Clinodactyly, Short neck	OMIM:616789
Fryns Syndrome	Ventriculomegaly, Short neck, Narrow chest, Clinodactyly of the 5th finger, Microphthalmia, Agene...	ORPHA:2059
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Abnormal finger ...	ORPHA:3472
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Cubitus valgus, 4-5 finger syndactyly, Hip dislocation, Fine hair, J...	OMIM:164200
Kabuki Syndrome	Ventriculomegaly, Short stature, Highly arched eyebrow, Hydrocephalus, Vertebral clefting, Hemive...	ORPHA:2322
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microp...	OMIM:243605
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Short femur, Metaphyseal spurs, Re...	OMIM:618188
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilateral microphthalmos, Coloboma, Se...	ORPHA:2399
Charge Syndrome	Anophthalmia, Short stature, Highly arched eyebrow, Postnatal growth retardation, Aqueductal sten...	ORPHA:138
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina	OMIM:611040
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Galloway-Mowat Syndrome 3	Arachnodactyly, Short stature, Pectus excavatum, Hip dislocation, Simplified gyral pattern, Lisse...	OMIM:617729
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Retinal coloboma	OMIM:601794
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypoplastic toenails, Synophrys, Abnormal toenail morphology, Abnormal vertebral morphology, Abno...	ORPHA:444077
Hydrolethalus	Anophthalmia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of...	ORPHA:2189
Warburg Micro Syndrome 4	Short stature, Perisylvian polymicrogyria, Low anterior hairline, Flexion contracture, Severe pos...	OMIM:615663
Squalene Synthase Deficiency	Optic nerve hypoplasia, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmen...	OMIM:618156
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex...	OMIM:613458
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly,...	OMIM:227646
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ventriculomegaly, Ulnar deviation of the wrist, Short...	ORPHA:97297
Weill-Marchesani Syndrome 2	Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Short st...	OMIM:608328
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Joint hypermobility, Abnormal hair ...	OMIM:607597
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma, Patent ductus arteriosus	OMIM:618652
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn...	OMIM:600920
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Skin Creases, Congenital Symmetric Circumferential, 1	Short neck, Pectus excavatum, Long fingers, Hypoplastic nipples, Microphthalmia, Dandy-Walker mal...	OMIM:156610
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Short stature, Small hand, Leukocoria, Short foot, Micro...	ORPHA:2714
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Hypoplastic toenail...	OMIM:306955
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Pat...	OMIM:164210
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han...	ORPHA:887
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Femoral bowing, Short long bone,...	OMIM:617022
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Ventriculomegaly, Short stature, Highl...	OMIM:303600
Trichothiodystrophy 3, Photosensitive	Brittle hair, Short stature, Neutropenia, Microphthalmia, Tiger tail banding, Lymphopenia, Tricho...	OMIM:616395
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea...	ORPHA:1300
Fontaine Progeroid Syndrome	Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Syndactyly, Death in infancy, Shor...	OMIM:612289
Frontofacionasal Dysplasia	Encephalocele, Short stature, Brushfield spots, Microphthalmia, Absent inner eyelashes, Iris colo...	ORPHA:1791
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Short stature, Splenomegaly, Patent ductus arteriosus, Spherocyt...	ORPHA:251066
Dubowitz Syndrome	Syndactyly, Sacral dimple, Sparse scalp hair, Aplastic anemia, Short stature, Postnatal growth re...	OMIM:223370
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,...	OMIM:619539
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteosclerosis, Clinod...	OMIM:300373
Degcags Syndrome	Osteopenia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leukopenia, Iron ...	OMIM:619488
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Increased intervertebral space, Phthisis ...	OMIM:619727
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Proportionate short stature, Abnormality of hair...	ORPHA:2108
Seckel Syndrome 2	Few cafe-au-lait spots, Short stature, Growth delay, Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Growth delay, ...	OMIM:120200
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Abnormal cortical gyration, Aplastic clavicle, A...	ORPHA:2538
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Hydrocephalus, Growth delay, Microph...	OMIM:614083
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Hy...	OMIM:611134
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Gray matter heterotopia, Coloboma, Vertebr...	ORPHA:453499
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Oculoauricular Syndrome	Phthisis bulbi, Iris cyst, Macular hypoplasia, Retinal coloboma, Chorioretinal coloboma, Micropha...	OMIM:612109
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Abnormal form of the vertebral bodi...	ORPHA:581
Radio-Renal Syndrome	Severe short stature, Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ...	ORPHA:3015
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Warburg Micro Syndrome 2	Overlapping toe, Postnatal growth retardation, Flexion contracture, Low anterior hairline, Microp...	OMIM:614225
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Smal...	ORPHA:488434
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Unilateral microphthalmos, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Prominent metopic ridge, Optic nerve hypoplasia, Postaxial polydactyly,...	ORPHA:352665
Ellis-Van Creveld Syndrome	Dandy-Walker malformation, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, ...	OMIM:225500
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Short stature, Optic nerve hypoplasia, Coloboma, Microphthalmia	OMIM:610125
Rubinstein-Taybi Syndrome 1	Flexion contracture, Low anterior hairline, Coloboma, Hypoplastic iliac wing, Clinodactyly of the...	OMIM:180849
Aspergillosis	Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, Abnormality ...	ORPHA:1163
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati...	ORPHA:857
Galloway-Mowat Syndrome 1	Ventriculomegaly, Short stature, Hypoplasia of the iris, Joint contracture of the hand, Small nai...	OMIM:251300
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Popliteal pterygium, Absent d...	OMIM:619339
Renpenning Syndrome 1	Brittle hair, Short stature, Pectus excavatum, Death in childhood, Coloboma, Sparse hair, Scolios...	OMIM:309500
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,...	OMIM:269150
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Kyphosis, Long fingers, Hydrocephalu...	ORPHA:401973
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Microphth...	ORPHA:284160
Witteveen-Kolk Syndrome	Proximal placement of thumb, Clinodactyly, Anisocoria, Short palm, Clinodactyly of the 5th finger...	OMIM:613406
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Ectopia pupillae, Long eyelashes, Recurre...	OMIM:615877
Zttk Syndrome	Curly hair, Ventriculomegaly, Short stature, Joint hypermobility, Craniosynostosis, Sparse eyebro...	OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ...	OMIM:312870
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Delayed cranial suture closure, Cra...	OMIM:620005
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Iris coloboma, Fi...	ORPHA:818
Lowe Oculocerebrorenal Syndrome	Ventriculomegaly, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis,...	OMIM:309000
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Short neck, Clinodactyly of th...	ORPHA:1587
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Short stature, Long eyebrows, Pectus excavatum, Widow's peak, Lon...	OMIM:201180
Joubert Syndrome 15	Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Hydrocephalus, Hypoplasia of the iris, Microphthalmia, Agenes...	OMIM:613001
Papillorenal Syndrome	Joint laxity, Short stature, Optic disc coloboma, Retinal coloboma, Scoliosis, Microphthalmia	OMIM:120330
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Thrombocytopenia	OMIM:619981
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Coloboma, Sparse hair, Phocomelia, Wrist f...	OMIM:268300
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, A...	OMIM:218600
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Short neck, Growth delay, Pigmentary retinopathy, Camptodactyly, Mi...	OMIM:614230
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Contra...	OMIM:300166
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Short stature, Absent thumb, Absent radius, Short th...	OMIM:600901
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Severe short stature, Joint stiffness, Abnormal rib mor...	ORPHA:2588
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Increased suscepti...	ORPHA:90354
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Short neck,...	OMIM:619879
Solitary Median Maxillary Central Incisor	Anophthalmia, Short stature, Coloboma, Microphthalmia, Cyclopia	OMIM:147250
Phakomatosis Pigmentokeratotica	Spina bifida, Melanocytic nevus, Coloboma, Patchy alopecia, Scoliosis, Hypophosphatemic rickets	ORPHA:2874
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Absent eyelashes, Abnormal hair morphology, Patent ductus arter...	ORPHA:861
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Optic disc coloboma,...	OMIM:608091
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Anemia,...	OMIM:227650
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,...	ORPHA:263508
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Frontonasal Dysplasia 2	Encephalocele, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, S...	OMIM:613451
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Ocular albinism, Aplasia ...	ORPHA:1352
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Short stature,...	OMIM:134780
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Camptodactyly of finger, Growth delay, Microphthalmia, Dandy-Walker malf...	OMIM:616920
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodactyly, ...	ORPHA:508488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Absent nipple, Broad hallux, Aplasia of the thymus, Short sta...	OMIM:620186
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Splenomegaly, Hammertoe, Abnormal epiphysi...	ORPHA:773
Otodental Dysplasia	Coloboma	OMIM:166750
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly, Frontal balding	ORPHA:1942
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Tapered finger, Pectus excavatum, Short neck, Long fingers, Synophrys, Low anterio...	OMIM:616734
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Short neck, Premature graying of hair, Sparse hair, Cl...	OMIM:113620
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Microcytic anemia	OMIM:618805
Branchio-Oculo-Facial Syndrome	Short stature, Preaxial hand polydactyly, Premature graying of hair, Coloboma, Fingernail dysplas...	ORPHA:1297
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma	ORPHA:2791
Fetal Akinesia Deformation Sequence 1	Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Elbow contracture, Hydr...	OMIM:208150
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Supernumerary nipple, Hip dislocation, Growth delay, Umbilical hernia, Chorioret...	OMIM:613884
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Broad hallux, Aplasia/hypoplasia involving bones of ...	ORPHA:2369
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Spl...	ORPHA:667
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ...	OMIM:117650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Pectus excavatum, Coloboma, Cutaneous finger ...	OMIM:606851
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Patent ductus arte...	OMIM:192350
Rodrigues Blindness	Sparse hair, Microphthalmia, Short stature, Fine hair	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Buphthalmos, Microphthalmia, Polymicrogyria, Agyria, Ventriculomegaly	OMIM:616538
Peters-Plus Syndrome	Proximal placement of thumb, Short neck, Limited elbow movement, Hemivertebrae, Short metatarsal,...	OMIM:261540
Anterior Segment Dysgenesis 2	Coloboma, Posterior synechiae of the anterior chamber, Anterior segment of eye aplasia, Aniridia,...	OMIM:610256
Fraser Syndrome 2	Short neck, Short thorax, Low anterior hairline, Cutaneous syndactyly, Hypoplasia of the thymus, ...	OMIM:617666
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Scarring alopecia of scalp, Ectopia pupillae, Microphtha...	OMIM:618727
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib morpholo...	ORPHA:2519
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Anophthalmia, Down-sloping shoulders, Kyphoscoliosis, Pectus ex...	OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Delayed cranial suture closure...	ORPHA:93325
Charge Syndrome	Anophthalmia, Hemivertebrae, Hand monodactyly, Coloboma, Iris coloboma, Hypoplasia of the ulna, S...	OMIM:214800
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Severe short stature, Short stature, Delayed closure of the anter...	OMIM:127000
22Q11.2 Deletion Syndrome	Short neck, Hypoplasia of the thymus, Arachnodactyly, Short stature, Spina bifida, Abnormal thora...	ORPHA:567
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma, Anterior synechiae of the anterior chamber	OMIM:269400
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand polydacty...	OMIM:236680
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Simplified gyral pattern	OMIM:152950
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Microphthalmia, Agenesis of c...	OMIM:309801
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Pallister-Hall Syndrome	Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Short stature, Patent ductus arteriosus, Rib...	ORPHA:672
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Short stature, Fine hair, Abnormality of skin pigmentation, Spars...	ORPHA:1806
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi...	ORPHA:3404
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Iris coloboma, Macular coloboma	OMIM:615145
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Patent ductus arteriosus, Microphthalmia, Distichiasis	OMIM:153400
Elsahy-Waters Syndrome	Pectus excavatum, Synophrys, Phthisis bulbi, Shortening of all phalanges of fingers, Cutaneous fi...	OMIM:211380
Mosaic Variegated Aneuploidy Syndrome	Ventriculomegaly, Short stature, Osteolysis, Multiple cafe-au-lait spots, Acute lymphoblastic leu...	ORPHA:1052
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the ...	ORPHA:364577
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal sternum morphology, Microphthalmia, Iris coloboma...	ORPHA:42775
Congenital Fibrinogen Deficiency	Microphthalmia, Abnormality of the subungual region, Clubbing of fingers, Splenic rupture	ORPHA:335
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short neck, Synophrys, Clinodactyly of the 5th finger, Prominent fingertip pads, Joint laxity, Pr...	OMIM:612474
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Sparse hair, Decreased skull ossification, Sparse eyebro...	ORPHA:1662
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Cat Eye Syndrome	Short stature, Absent radius, Patent ductus arteriosus, Umbilical hernia, Chorioretinal coloboma,...	OMIM:115470
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Agenesis of corpus callosum, Lateral ventricle dilatation, Hyperpigmented streaks	OMIM:300952
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Hypoplasia of the iris, Anterior synechiae of the anteri...	OMIM:604229
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Broad hallux, Arachnodactyly, Pectus excavatum, Cubitus valgus, Anter...	OMIM:601552
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Short stature	OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, Buphthalmos, Posterior synec...	OMIM:221900
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Sacral dimple, Anophthalmia, Severe short stature, Abnormal ...	ORPHA:2556
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Splenomegaly, Postaxial hand polydactyly, Growth delay, C...	OMIM:216360
Familial Multiple Lipomatosis	Coloboma, Bowing of the long bones, Ventriculomegaly, Accelerated skeletal maturation	ORPHA:199276
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Scoliosis, Chorioretinal coloboma, Microphthalmia, Cyclo...	OMIM:157170
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Patent ductus art...	OMIM:617088
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Umbilical hernia, Microphthalmia, Irregular hyperpigmentation, Generalized hirsutism	ORPHA:2505
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinodactyly, Cra...	ORPHA:306542
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervical spine, Joint la...	ORPHA:353277
Esophageal Atresia	Laryngotracheomalacia, Growth delay, Coloboma, Scoliosis, Clinodactyly, Abnormal vertebral morpho...	ORPHA:1199
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow disloca...	ORPHA:2554
Cockayne Syndrome Type 3	Dry hair, Mild postnatal growth retardation, Splenomegaly, Kyphosis, Flexion contracture, Prematu...	ORPHA:90324
Xeroderma Pigmentosum, Complementation Group B	Freckling, Short stature, Pigmentary retinopathy, Microphthalmia, Ventriculomegaly	OMIM:610651
Holoprosencephaly 7	Occipital meningocele, Synophrys, Bilateral microphthalmos, Partial agenesis of the corpus callos...	OMIM:610828
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Familial Exudative Vitreoretinopathy	Microphthalmia, Reduced bone mineral density	ORPHA:891
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Synophrys, Abnormal curvature of the vertebral column, Abnormality of skin pigmentatio...	OMIM:619475
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Severe short stature, Postnatal growth retardation...	ORPHA:191
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Hypopigmented...	ORPHA:2907
Fraser Syndrome	Encephalocele, Finger syndactyly, Death in infancy, Toe syndactyly, Anophthalmia, Abnormal hair p...	ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Agenesis of corpus cal...	ORPHA:261537
Holoprosencephaly 9	Anophthalmia, Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Postaxial hand p...	OMIM:610829
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha...	OMIM:200990
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcor...	OMIM:609049
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Abnormal pupil morphology, Calcaneovalgus deformity, Flexion contracture, Pectus carina...	ORPHA:261552
Mowat-Wilson Syndrome	Asplenia, Calcaneovalgus deformity, Flexion contracture, Pectus carinatum, Agenesis of corpus cal...	ORPHA:2152
Proboscis Lateralis	Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Optic nerve hypoplas...	ORPHA:141099
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia, Abnormal spleen morphology, Intrauterine growth retardation	ORPHA:2470
Mowat-Wilson Syndrome	Ventriculomegaly, Short stature, Supernumerary nipple, Pectus excavatum, Patent ductus arteriosus...	OMIM:235730
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Umbilical hernia, Microphthalmia, Cyclopia	ORPHA:2166
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Patent ductus arteriosus, Bilateral microphtha...	OMIM:601186
Meckel Syndrome	Accessory spleen, Encephalocele, Bowing of the long bones, Anophthalmia, Asplenia, Preaxial hand ...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Microphthalmia,...	OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the ...	OMIM:608670
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Small nail, Microphthalmia, Pachyg...	OMIM:100300
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum	ORPHA:63260
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Broad hallux, Short stature, Avascular necrosis of the capital femoral epiphysis, P...	ORPHA:353281
Marcus-Gunn Syndrome	Postnatal growth retardation, Coloboma	ORPHA:91412
Vitreoretinochoroidopathy	Microphthalmia, Pigmentary retinopathy	OMIM:193220
Dextrocardia	Abnormality of the spleen, Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Death in infancy, Short stature, Spina bifida, Abnor...	ORPHA:991
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Severe short stature, Abnormal e...	ORPHA:2526
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Coloboma, Short middle phalan...	OMIM:607932
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Histiocytoid Cardiomyopathy	Microphthalmia, Hydrocephalus, Agenesis of corpus callosum, Congenital aphakia	ORPHA:137675
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Abnormal cortical g...	OMIM:219000
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Pigmentary retinopathy, Butterfly...	OMIM:118450
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormal hair pattern	ORPHA:2717
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Anemia,...	ORPHA:2908
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Leukocoria, Buphthalmos	OMIM:310600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Iris coloboma	ORPHA:2250
Blepharophimosis, Ptosis, And Epicanthus Inversus	Sparse pubic hair, Microphthalmia, Highly arched eyebrow	OMIM:110100
Phace Association	Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Dandy-Walker malformation	OMIM:606519
Norrie Disease	Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abnormal pupil morpholog...	ORPHA:649
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormality of the hairline	OMIM:248450
Congenital Ptosis	Prominent metopic ridge, Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Short stature, Postaxial polydactyly, Aqueductal stenosis, Splenomegaly, ...	OMIM:619534
Frontofacionasal Dysplasia	Microphthalmia, Absent inner eyelashes, Iris coloboma, Cranium bifidum occultum	OMIM:229400
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma, Synophrys	OMIM:603457
Holoprosencephaly 1	Microphthalmia, Cyclopia, Agenesis of corpus callosum, Short stature	OMIM:236100
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Bowing of the legs, Coloboma, Retinal coloboma, Long hallux	OMIM:617107
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Tetraamelia Syndrome 1	Asplenia, Microphthalmia, Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Death in infancy	OMIM:618183
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Reduced bone mineral density, Growth delay, Col...	ORPHA:47159
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus, Polycoria, Hypoplasia of the iris, Ectopia pupillae, Microphthalmia	OMIM:175780
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Sparse lower eyelashes	OMIM:154500

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 Rps7

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 Rps7.

No publications found that use IMPC mice or data for Rps7.

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MGI Allele	Allele Type	Produced
Rps7^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rps7^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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