Gene Summary

centromere protein J
4932437H03Rik,  Sas4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 5.06×10-24
decreased lean body mass Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 4.29×10-17
abnormal external male genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 1.66×10-15
abnormal ulna morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 6.81×10-09
abnormal vertebrae morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.40×10-08
abnormal humerus morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 5.32×10-17
abnormal tibia morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 6.10×10-15
abnormal external female genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 3.16×10-09
abnormal head morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.18×10-14
abnormal cranium morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.46×10-11
abnormal behavior Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 8.41×10-16
abnormal tail movements Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.58×10-09
vertebral fusion Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 7.23×10-06
increased circulating bilirubin level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.09×10-05
decreased bone mineral content Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 5.65×10-15
increased circulating potassium level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-07
abnormal tail morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 4.79×10-14
decreased body length Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.65×10-10
abnormal joint morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.64×10-14
decreased total body fat amount Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 6.24×10-08

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 66.67% (2 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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



18 Images

Legacy Phenotype Associated Images

View all 197 images

View all 16 images

View all 6 images

View all 6 images

Human diseases caused by Cenpj mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Partial agenesis of the corpus callosum,... OMIM:210710
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... ORPHA:1040
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Trisomy 13
Anophthalmia, Atrial septal defect, Intrauterine growth retardation, Iris coloboma, Bilateral sin... ORPHA:3378
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Epicanthus, Short stature, Microcephaly, Synophrys, Delayed skeletal maturatio... ORPHA:3268
2Q24 Microdeletion Syndrome
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi... ORPHA:1617
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short st... OMIM:616507
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Co... OMIM:609465
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... ORPHA:3104
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def... OMIM:609053
Galloway-Mowat Syndrome 6
Epicanthus, Short stature, Decreased response to growth hormone stimulation test, Microcephaly, D... OMIM:618347
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi... ORPHA:2633
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, A... ORPHA:93323
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ... ORPHA:485
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... ORPHA:1837
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Ataxia, Cryptorchidism, Delayed skeletal maturation, Hypogonadism, Mic... ORPHA:3363
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral densi... ORPHA:2370
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... OMIM:256050
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... ORPHA:93307
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Microcephaly, Optic atrophy, Upslanted palpebral fissure, Ir... OMIM:620086
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Obesity, Hypogonadism, Abnormal metacarpal morphology, A... ORPHA:2233
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Small for gestational age, Upper limb phocomelia, Abnormal heart morphology, Abnormal... ORPHA:294975
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Fanconi Anemia
Abnormal eyelid morphology, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, ... ORPHA:84
Puberty and gonadal disorders, Rod-cone dystrophy, Decreased LDL cholesterol concentration, Short... ORPHA:79320
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... ORPHA:370010
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Synophrys, Flexion contracture, Leukopenia, Chorioretinal hypop... OMIM:617303
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age, Microcephaly, Defective DNA repair after ultraviolet radiati... OMIM:278780
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ... ORPHA:319195
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr... OMIM:602111
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi... ORPHA:2741
Walker-Warburg Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Microcornea,... ORPHA:899
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the fibula... ORPHA:2141
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Lateral ventricle... OMIM:619479
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Proximal placement of thumb, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification,... ORPHA:79324
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia, Accelerated skeletal maturation OMIM:129850
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short stature, Microcephaly, Microcy... OMIM:619013
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of... ORPHA:139471
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Decreased circulating T4 concentration, Cryptorchidism, Patent ductus arteriosus, Thr... OMIM:608104
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Microcephaly, Abnormal thumb morphology, Thrombocytopenia, G... OMIM:614082
Fanconi Anemia, Complementation Group C
Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Complete duplicatio... OMIM:227645
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... ORPHA:2639
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Femoral bowing, Reduced bone mineral density, Dislocated radial head, An... OMIM:614856
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Kbg Syndrome
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Single transve... ORPHA:2332
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Aarskog-Scott Syndrome
Short palm, Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Single ... ORPHA:915
Fanconi Anemia, Complementation Group S
Chromosome breakage, Epicanthus, Short stature, Proximal placement of thumb, Microcephaly, Ovaria... OMIM:617883
Microphthalmia, Syndromic 3
Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Micropenis, Agenesis of... OMIM:206900
Mucolipidosis Ii Alpha/Beta
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Megalocornea... OMIM:252500
Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Short neck, Abnormality of th... ORPHA:2162
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Gait disturbance, Sco... ORPHA:1445
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Deviation of finger, Vertebral segmentation defect, Eyelid coloboma, ... ORPHA:1104
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Scle... ORPHA:77298
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Abnormal form of... ORPHA:83468
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... OMIM:606612
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, E... OMIM:609052
Osteopenia, Joint dislocation, Multiple joint contractures, Partial agenesis of the corpus callos... ORPHA:33364
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, Precocious puberty, 2-... OMIM:615877
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Small for gestational age, Short stature, Microcephaly, Optic atrophy, Hypo... OMIM:251300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Micro... OMIM:201000
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Microcephaly, Pericardial effus... OMIM:613885
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Chorioret... ORPHA:959
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o... OMIM:619636
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... ORPHA:2916
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... ORPHA:249
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, D... ORPHA:2831
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved ey... OMIM:300166
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Gorlin Syndrome
Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Hypogonadotropic hypogonadis... ORPHA:377
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r... OMIM:619345
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Shallow orbits, Atrial septal defect, Spin... OMIM:150250
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplas... OMIM:300514
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Optic nerve hypoplasia... OMIM:615583
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Distal Deletion 6P
Atrial septal defect, Epicanthus, Posterior embryotoxon, Corneal opacity, Short foot, Hypoplasia ... ORPHA:96125
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Koolen-De Vries Syndrome
Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Iris hypopigmentation, Ver... OMIM:610443
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... ORPHA:95717
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Small scrotum, Congenital ... ORPHA:261344
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Orbital cyst, Ey... OMIM:164180
Cockayne Syndrome Type 2
Anophthalmia, Kyphosis, Cryptorchidism, Flexion contracture, Uveitis, Developmental cataract, Mal... ORPHA:90322
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Microcephaly, Pericardial effusion, Osteoporosis, Chorioretinal a... OMIM:619487
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Highly arched eyebrow, Postnatal growth retardatio... OMIM:619135
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Skel... OMIM:616716
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Vertebral fusion, Elbow contracture, Tarsal synostosis, Cranios... OMIM:178110
Charge Syndrome
Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormali... ORPHA:138
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Partial agenesis of the co... OMIM:270400
Xeroderma Pigmentosum, Complementation Group F
Short stature, Microcephaly, Flexion contracture, Defective DNA repair after ultraviolet radiatio... OMIM:278760
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Immunodeficiency 54
Chromosome breakage, Short stature, Microcephaly, Postnatal growth retardation, Splenomegaly, Adr... OMIM:609981
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Microcephaly, D... OMIM:618097
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... OMIM:249700
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Osteopenia, Failure to thrive, Metaphyseal irregularity OMIM:269920
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... OMIM:607155
Fragile X Syndrome
Joint laxity, Macroorchidism, postpubertal, Mitral valve prolapse, Folate-dependent fragile site ... OMIM:300624
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Sh... OMIM:194190
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short sta... OMIM:139210
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration ORPHA:673
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae, Micropenis, D... OMIM:268310
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Lig4 Syndrome
Epicanthus, Abnormality of chromosome stability, Telecanthus, Hypoplasia of penis, Pancytopenia, ... ORPHA:99812
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Narrow palm, Sho... ORPHA:177910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia, Microcephaly, Postnatal growth retardation, In... OMIM:600546
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Smal... OMIM:616229
Roifman Syndrome
Single transverse palmar crease, Irregular vertebral endplates, Clinodactyly of the 5th finger, S... OMIM:616651
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... OMIM:250460
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia,... OMIM:222765
Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vert... ORPHA:66637
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:353298
Basal Cell Nevus Syndrome 1
Palmar pits, Hemivertebrae, Cardiac fibroma, Iris coloboma, Vertebral fusion, Spina bifida, Cardi... OMIM:109400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic ilia... OMIM:235510
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... OMIM:600325
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna ORPHA:971
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Short stature, Skeletal musc... ORPHA:100
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, External genital hypoplasia, Decreased response to... OMIM:214800
Cohen Syndrome
Abnormal eyelid morphology, Neutropenia, Clinodactyly of the 5th finger, Iris coloboma, Finger sy... ORPHA:193
Fanconi Anemia, Complementation Group F
Atrial septal defect, Sacral dimple, Short stature, Decreased response to growth hormone stimulat... OMIM:603467
Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemi... ORPHA:79327
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ... ORPHA:254531
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Short stature, Neonatal insulin-dependent diabetes mellitus,... ORPHA:1667
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... ORPHA:2345
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Spina bifida, Cryptorchidism, Hypoplasia of the radius, Hip ... ORPHA:3412
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H... ORPHA:239
Hypomelanosis Of Ito
Syndactyly, Epicanthus, Cataract, Microcephaly, Kyphosis, Macrocephaly, Hand polydactyly, Radial ... OMIM:300337
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ... OMIM:249710
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Cataract, Arachnodactyly, Hypospadias, Short stature, Microcephaly,... ORPHA:96169
Fanconi Anemia, Complementation Group O
Chromosome breakage, Short stature, External genital hypoplasia, Proximal placement of thumb, Abs... OMIM:613390
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Ra... OMIM:617053
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
20P13 Microdeletion Syndrome
Finger syndactyly, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly... ORPHA:313781
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Salm... OMIM:209950
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Obesity, Polydactyly, Hypogonadism, Macular dystrophy, M... OMIM:615983
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemi... OMIM:618805
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Single transverse palmar crease, Delayed skeletal maturation, Osteopor... ORPHA:73272
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Epicanthus, Short stature, Tapered finger, Microcephaly, Kyphosis, Hypo... ORPHA:2479
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Severe short stature, Highly arched eye... ORPHA:2319
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... ORPHA:3098
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short stature, Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Short... OMIM:619060
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Agenesis of corpus cal... OMIM:227646
Temple Syndrome
Relative macrocephaly, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, Sho... OMIM:616222
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Abnormal form of the vertebral bod... ORPHA:2839
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Micropenis, Hypogonadotropic hypogonadism, Short stature, Tapered finger, C... OMIM:617159
Cornelia De Lange Syndrome 2
Ptosis, Short stature, Proximal placement of thumb, Highly arched eyebrow, Limited elbow movement... OMIM:300590
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal dystrophy... ORPHA:1101
Cerebrooculonasal Syndrome
Encephalocele, Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial poly... OMIM:605627
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Microcephaly, Optic atrophy, Defective DNA repair after ultraviol... OMIM:610965
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Cockayne Syndrome Type 1
Cataract, Foot joint contracture, Anophthalmia, Postnatal growth retardation, Cryptorchidism, Opt... ORPHA:90321
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, Osteopathia striata, S... OMIM:305600
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Relative macrocephaly, Small for gestational age, Abnormal external genitalia, Delayed closure of... ORPHA:231140
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hypocholester... ORPHA:14
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... OMIM:108720
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... ORPHA:93357
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Central heterochromia, Skeletal muscle atrophy, Optic disc hypop... ORPHA:233
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th... OMIM:600901
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, Microcephaly, Short thumb, T-cell acute lymphoblastic leuk... OMIM:605724
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph... ORPHA:2556
Otopalatodigital Syndrome Type 2
Omphalocele, Bowing of the long bones, Increased bone mineral density, Hypospadias, Camptodactyly... ORPHA:90652
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... OMIM:151210
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Atrial ... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxit... ORPHA:508498
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Leukopenia, Micropenis, Agenesis of corpus ca... OMIM:301056
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Overlapping toe, Small for gestational age, Postaxial polyda... OMIM:613792
Galloway-Mowat Syndrome 3
Epicanthus, Arachnodactyly, Short stature, Microcephaly, Hip dislocation, Hypoalbuminemia, Campto... OMIM:617729
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent th... OMIM:227650
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Terminal Osseous Dysplasia
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple joint contractures... OMIM:300244
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, B... OMIM:213980
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short neck, Short palm, Clinodactyly of the 5th finger, Micropenis, Agenesis of corpus callosum, ... OMIM:620073
Lamb-Shaffer Syndrome
Epicanthus, Mild postnatal growth retardation, Microcephaly, Decreased head circumference, Optic ... ORPHA:530983
Wiedemann-Steiner Syndrome
Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger, Atrial septal defect,... OMIM:605130
Chromosome 16Q22 Deletion Syndrome
Epicanthus, Prominent metopic ridge, Broad hallux, Small for gestational age, Highly arched eyebr... OMIM:614541
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Conjunctivitis, Thoracic kyphosis, Hypoalbuminemia, ... ORPHA:505248
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... ORPHA:95716
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla... OMIM:615524
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys... OMIM:615761
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long p... ORPHA:1988
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... ORPHA:1856
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Crumpled long bones, Retinal detachment, Corneal opacity, Short stature... ORPHA:2788
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Alagille Syndrome
Keratoconus, Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Corneal dys... ORPHA:52
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Three M Syndrome 1
Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Spina ... OMIM:273750
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:616050
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Epicanthus, Short stature, Osteolysis involving bones of the upper limbs, Flexion con... ORPHA:88630
Temple Syndrome
Relative macrocephaly, Small for gestational age, Short stature, Decreased response to growth hor... ORPHA:254516
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pai... ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:264700
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... ORPHA:1307
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... OMIM:607323
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati... OMIM:611209
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Isolated Polycystic Liver Disease
Back pain, Increased total bilirubin ORPHA:2924
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... OMIM:176270
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Shox-Related Short Stature
Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergro... ORPHA:314795
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S... OMIM:615777
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Back pain, Increased total bilirubin OMIM:174050
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Microcephaly, Cryptorchidism, Hypoalbuminemia, Hypogonadism, ... OMIM:617575
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Syndactyly, Small for gestational age, ... OMIM:210900
Baraitser-Winter Syndrome 1
Epicanthus, Short stature, Bicuspid aortic valve, Highly arched eyebrow, Short neck, Microcephaly... OMIM:243310
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Narrow greater ... OMIM:253220
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Bardet-Biedl Syndrome 11
Hypogonadism, Retinopathy, Polydactyly, Obesity OMIM:615988
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cataract, Optic ner... ORPHA:370959
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Hypergonadotropic hypogonadism, Microcephaly, Almond-shaped palpebral f... OMIM:212065
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Hemivertebrae, Abnormal tricuspid valve morp... ORPHA:7
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Omodysplasia 2
Short humerus, Hypospadias, Cryptorchidism, Anterior wedging of T11, Uterus didelphys, Fibular hy... OMIM:164745
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Hyperbilirubinemia, Decreased body weight, Abnormalit... OMIM:614886
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly arc... OMIM:619451
Isolated Osteopoikilosis
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... ORPHA:166119
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Abnormal rib morph... ORPHA:2522
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... OMIM:608940
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... OMIM:271640
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... OMIM:108721
Meckel Syndrome
Anophthalmia, Sclerocornea, Asplenia, Microcornea, Encephalocele, Accessory spleen, Abnormal chor... ORPHA:564
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... ORPHA:356961
Kbg Syndrome
Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm... OMIM:148050
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Short neck, Bilateral cryptorchidism, Flexion contracture, Ankylobleph... OMIM:263650
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Short thumb, Microphthalmia, Chromosomal breakage induced by crossl... OMIM:609054
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... ORPHA:2298
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism,... ORPHA:494344
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Codas Syndrome
Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Cataract, Short stature, Ventri... ORPHA:1458
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Seckel Syndrome 4
11 pairs of ribs, Severe short stature, Microcephaly, Steep acetabular roof, Decreased body weigh... OMIM:613676
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os... ORPHA:371428
Aicardi Syndrome
Proximal placement of thumb, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Hemi... OMIM:304050
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... OMIM:277440
Shashi-Pena Syndrome
Atrial septal defect, Short metacarpal, Epicanthus, Hypoglycemia, Highly arched eyebrow, Accelera... OMIM:617190
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Unilateral cryptorchidism, Ventricular septal defect, Kyphoscoliosis, Mi... ORPHA:447980
Chondrodysplasia Punctata 2, X-Linked Dominant
Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Rhizomelia, Sparse eyebrow, Epiphyseal stip... OMIM:302960
Hijazi-Reis Syndrome
Ankle clonus, Gait disturbance, Hyperbilirubinemia OMIM:301094
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow ORPHA:411986
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Micr... OMIM:619055
Weill-Marchesani Syndrome 2
Broad skull, Short metatarsal, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, L... OMIM:608328
Weill-Marchesani Syndrome 4
Iridodonesis, Short stature, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior... OMIM:613195
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypocalcemia, Short tibia, Micropenis, Patent foramen ovale, Rhizomelia, Hypospadi... OMIM:607143
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... OMIM:242150
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Telecanthus, Severe short stature, Micromelia, Microcephaly, ... ORPHA:1422
Smith-Magenis Syndrome
Retinal detachment, Toe syndactyly, Failure to thrive in infancy, Hypertriglyceridemia, Short sta... ORPHA:819
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
Bardet-Biedl Syndrome 10
Retinal dystrophy, Obesity, Hypogonadism, Polydactyly, Rod-cone dystrophy OMIM:615987
Fanconi Anemia, Complementation Group R
Absent thumb, Microcephaly, Chromosomal breakage induced by crosslinking agents, Growth delay, An... OMIM:617244
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia OMIM:620357
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... OMIM:600373
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Obesity, Polydactyly, Rod-cone dystrophy, Attenuation of... OMIM:615990
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Decreased body weight, Decreased serum iron, Corneal erosion, Flexion co... ORPHA:89842
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Abnormally large globe, Clinodac... OMIM:210600
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short neck, Clinodact... OMIM:113620
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Marshall Syndrome
Retinal detachment, Epicanthus, Radial bowing, Cataract, Short stature, Coxa valga, Hypoplastic i... OMIM:154780
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Short palm, Clino... ORPHA:264200
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Microcornea, Clinodactyly of the 5th finger, Finger syndac... ORPHA:2710
Silver-Russell Syndrome
Decreased muscle mass, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Clinoda... ORPHA:813
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Microphthalmi... OMIM:601552
Bardet-Biedl Syndrome 16
Short stature, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Rod-cone dystroph... OMIM:615993
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh... OMIM:602471
19P13.12 Microdeletion Syndrome
Short neck, Synophrys, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Hypothyr... ORPHA:254346
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Accelerated skeletal maturation, Neonatal epiphyseal stippling... OMIM:101800
Martsolf Syndrome 1
Thoracic scoliosis, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Shor... OMIM:212720
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with ... ORPHA:90791
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l... OMIM:241600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Cardiomyop... OMIM:616549
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Hypoplasia of penis, Sparse eyebrow, Postaxial hand p... ORPHA:66625
Fanconi Anemia, Complementation Group L
Chromosome breakage, Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Upslanted palpe... OMIM:614083
Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... OMIM:616000
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Congenital contracture, Micropenis, Agenesis of corpus callosu... OMIM:248700
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Cervical C2/C3 vertebral fusion, Microcephaly, Growth delay, Talipes equinovarus, ... OMIM:617333
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Cataract, Spina bifida, Microcephaly, Preaxial polydactyly, Sc... ORPHA:64754
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... ORPHA:464329
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Micropenis, Decr... OMIM:201750
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Microceph... ORPHA:50
Osteogenesis Imperfecta, Type Xii