Gene Summary

Name:
centromere protein J
Synonyms:
4932437H03Rik,  Sas4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tail movements Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.05×10-07
vertebral fusion Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.12×10-05
decreased bone mineral content Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.23×10-13
abnormal tibia morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 4.40×10-13
increased circulating potassium level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.10×10-07
abnormal vertebrae morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-07
decreased body length Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal tail morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.90×10-12
abnormal joint morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-12
decreased locomotor activity Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.59×10-08
decreased total body fat amount Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 5.89×10-09
abnormal external male genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 1.37×10-07
decreased lean body mass Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 7.39×10-16
abnormal humerus morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.51×10-15
abnormal ulna morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 3.12×10-07
abnormal behavior Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-12
abnormal head morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 2.45×10-12
abnormal external female genitalia morphology Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 5.74×10-14
abnormal cranium morphology Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 4.98×10-10
increased circulating bilirubin level Cenpjtm1a(EUCOMM)Wtsi HOM Early adult 1.11×10-05
decreased body weight Cenpjtm1a(EUCOMM)Wtsi HOM   Early adult 1.09×10-24

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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 0.79% (4 of 506)
aorta 0.2% (1 of 500)
blood vessel 0.0%
bone 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
eye 0.0%
gall bladder 0.0%
heart 0.4% (2 of 502)
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 513)
peyer's patch 0.67% (1 of 149)
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
striatum 0.59% (3 of 507)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
trachea 0.57% (3 of 523)
uterus 0.39% (2 of 515)
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.

Histopathology

Images

9 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
phenotypes
Matching phenotypes Source
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... OMIM:618019
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cata... ORPHA:166011
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Femoral bowing, Platyspondyly, Short neck, Micromelia, 11 pairs of ribs, Single t... OMIM:210710
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Short neck, Disproportionate short-trunk short stature, Cataract, Block vertebr... OMIM:272460
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Undulate ribs, ... OMIM:211350
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Trisomy 13
Optic atrophy, Ventricular septal defect, Cataract, Microphthalmia, Intrauterine growth retardati... ORPHA:3378
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemivertebrae, Delayed cranial sut... OMIM:113000
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... ORPHA:1350
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Microphthalmia, Small for gestatio... ORPHA:1617
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Short stature, Microcephaly, Scoliosis, Radioulnar... ORPHA:3268
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Al-Gazali Syndrome
Recurrent fractures, Corneal opacity, Failure to thrive, Bilateral talipes equinovarus, Proximal ... OMIM:609465
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of ... ORPHA:3104
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Ventricular septal defe... OMIM:609053
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Clinodactyly of the 5th finger, Abnormal cardia... ORPHA:2370
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Accelerated skeletal maturation, Sparse eyebrow, Abnormally o... ORPHA:175
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Macrocephaly, Short neck, Platyspondyly, Dispropo... ORPHA:485
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... ORPHA:1837
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Galloway-Mowat Syndrome 6
Decreased body weight, Clinodactyly of the 5th finger, Decreased response to growth hormone stimu... OMIM:618347
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Increased intervertebral space, Bifid humerus, Horizon... OMIM:256050
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... ORPHA:1275
Mucopolysaccharidosis-Plus Syndrome
Short neck, Optic atrophy, Long eyelashes, Flexion contracture, Flared iliac wing, Splenomegaly, ... OMIM:617303
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, Hypogonadism, Obesity, A... ORPHA:2233
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Accelerated skeletal maturation, Arthralgia of the hip, Abnormal hand morpholog... ORPHA:93307
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Small fo... ORPHA:294975
Alg6-Cdg
Failure to thrive, Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-c... ORPHA:79320
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal irregularity, Congenital stationary night blindness, Metaphysea... ORPHA:319195
Fanconi Anemia
Abnormality of femur morphology, Abnormal cardiac septum morphology, Absent testis, Abnormality o... ORPHA:84
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... ORPHA:2741
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Microphthalmia With Limb Anomalies
Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, Hand oligodactyly... OMIM:206920
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Arachnodactyly, Microcephaly, Hepatosplenomegaly, Scoliosis, Hypothyroidism, Hyper... OMIM:619013
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Intrauterine growth retardatio... ORPHA:79324
Walker-Warburg Syndrome
Macrocephaly, Microcornea, Retinal dystrophy, Optic atrophy, Abnormal circulating creatine kinase... ORPHA:899
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Accelerated skeletal maturation OMIM:129850
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Cryptorchidism, Short neck, Neonatal death, Camptodactyly... OMIM:608104
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Microcephaly, Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Mi... ORPHA:139471
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Anophthalmia, Dextrocardia, Microphthalmia, Supernumerary ribs, Ve... OMIM:221950
Fanconi Anemia, Complementation Group C
Absent thumb, Hypergonadotropic hypogonadism, Ventricular septal defect, Complete duplication of ... OMIM:227645
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Tip-toe gait, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... OMIM:606612
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Accelerated skeletal maturation, H... ORPHA:950
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Microcephaly, Cataract, Microphthalmia, Growth delay, Defective DNA re... OMIM:278780
Kbg Syndrome
Thick eyebrow, Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Fing... ORPHA:2332
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... OMIM:171480
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Brachydactyly, Finger symphalangism, Proximal symphalangi... OMIM:610017
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Craniosynostosis, Osteopenia, Megalocornea, Bullet-shaped phalanges of the hand, ... OMIM:252500
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Inguinal hernia, Abnormal vertebral segmentation... ORPHA:915
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Disproportionate short-limb short stature, Flexion contracture, Small pituitary g... OMIM:619479
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... ORPHA:93314
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hemivertebrae, Ventricular septal defect, Cataract, Microphthalmia, Rib f... OMIM:206900
Holoprosencephaly
Macrocephaly, Short neck, Optic atrophy, Ventricular septal defect, Microphthalmia, Encephalocele... ORPHA:2162
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:618363
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Narrow palm, Gait disturbance, Clino... ORPHA:1445
Fanconi Anemia, Complementation Group S
Failure to thrive, Ovarian neoplasm, Chromosome breakage, Short stature, Upslanted palpebral fiss... OMIM:617883
Fanconi Anemia, Complementation Group G
Microphthalmia, Microcephaly, Abnormal thumb morphology, Neutropenia, Growth delay, Anemia, Throm... OMIM:614082
Solitary Bone Cyst
Lytic defects of the radius, Muscular edema, Back pain, Abnormal humeral diaphysis morphology, Ab... ORPHA:83468
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Disproport... OMIM:609052
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Anophthalmia, Deviation of finger, Iris coloboma, Eyelid coloboma,... ORPHA:1104
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Retinal dystrophy, Upper limb under... ORPHA:168549
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hemivertebrae, Hypospadias, 11 pairs of ribs, Anophthalmia, Ventricular sept... ORPHA:77298
Hypercholanemia, Familial, 2
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... ORPHA:2916
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Abnormal epiphy... ORPHA:95717
Meckel Syndrome, Type 8
Talipes equinovarus, Microcephaly, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydact... OMIM:613885
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Talipes equinovarus, Joint contracture of the hand, Slender fing... OMIM:251300
Carpenter Syndrome 1
External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, ... OMIM:201000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Acromesomelic Dysplasia 4
Broad phalanx, Accelerated skeletal maturation, Platyspondyly, Broad finger, Genu valgum, Rhizome... OMIM:619636
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Macrocephaly, Cryptophthalmos, Precocious puberty, Ectopia pupillae, Hypospad... OMIM:615877
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... ORPHA:959
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Hemivertebrae, Scoliosis, Wide humerus, Glenoid fossa hypoplasia, Elongated... OMIM:619345
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Microcornea, Radioulnar synosto... OMIM:300166
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Trichothiodystrophy
Multiple joint contractures, Retinal degeneration, Macular degeneration, Craniosynostosis, Osteop... ORPHA:33364
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Hypogonadotropic hypogonadism, Scoliosis, Brachy... ORPHA:377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... OMIM:619135
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma OMIM:616428
Distal Monosomy 6P
Vertebral segmentation defect, Corneal opacity, Clinodactyly of the 5th finger, Talipes equinovar... ORPHA:96125
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... OMIM:618469
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Microphthalmia, Orbital cyst, Congenital hip dislocation, Anophthalmia, Ey... OMIM:164180
Fragile X Syndrome
Macrocephaly, Poor eye contact, Folate-dependent fragile site at Xq28, Metacarpophalangeal joint ... OMIM:300624
Cockayne Syndrome Type 2
Kyphosis, Intrauterine growth retardation, Flexion contracture, Limb hypertonia, Scoliosis, Anoph... ORPHA:90322
Trisomy 1Q
Macrocephaly, Congenital diaphragmatic hernia, Small scrotum, Arachnodactyly, Camptodactyly of fi... ORPHA:261344
Carpenter Syndrome
Abnormal cornea morphology, Kyphoscoliosis, Talipes equinovarus, External genital hypoplasia, Cra... ORPHA:65759
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping... OMIM:616716
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fing... OMIM:263540
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Large iliac wing, Reduced bone mineral density, Abnormal hip bo... ORPHA:577
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Smith-Lemli-Opitz Syndrome
Micromelia, Hammertoe, Ventricular septal defect, Ambiguous genitalia, Hip subluxation, Cataract,... OMIM:270400
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Charge Syndrome
Abnormal cardiac septum morphology, Labial hypoplasia, Hemivertebrae, Optic atrophy, Microphthalm... ORPHA:138
Aicardi-Goutieres Syndrome 9
Failure to thrive, Micropenis, Anemia, Chorioretinal atrophy, Microcephaly, Hepatosplenomegaly, S... OMIM:619487
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Tibial bowing, Delayed epiphyseal ... OMIM:600081
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Macrocephaly, Childhood onset ... ORPHA:429
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Camurati-Engelmann Disease
Abnormality of femur morphology, Ataxia, Abnormality of the humerus, Genu valgum, Hypogonadism, A... ORPHA:1328
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Bilateral talipes equinovarus, Hy... OMIM:618022
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Scoliosis, Micro... ORPHA:48431
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Fanconi Anemia, Complementation Group B
Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Short neck, Aplastic anemia, Ventricula... OMIM:300514
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... OMIM:135100
Infantile Sialic Acid Storage Disease
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Metaphyseal irregularity OMIM:269920
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Failure to thrive, Flexion contracture, Osteopenia, Microcephaly, ... OMIM:222765
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ventricular septal defect, Pericardial lymphangiectasia, Umbil... OMIM:235510
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Koolen-De Vries Syndrome
Slender finger, Prominent fingertip pads, Narrow palm, Ventricular septal defect, Cataract, Intra... OMIM:610443
Microphthalmia With Limb Anomalies
True anophthalmia, Abnormality of the upper limb, Optic atrophy, Sandal gap, Bowing of the long b... ORPHA:1106
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimenta... OMIM:249700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Platyspondyly, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Ovo... ORPHA:85167
Myhre Syndrome
Macrocephaly, Cone-shaped epiphysis, Platyspondyly, Short neck, Birth length less than 3rd percen... OMIM:139210
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... OMIM:268310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Tip-toe gait, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordo... OMIM:607155
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Malaria
Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Poor eye contact, Postnatal growth retardation, Maturity-onset diabetes of th... ORPHA:254531
Wolf-Hirschhorn Syndrome
Radioulnar synostosis, Single transverse palmar crease, Ventricular septal defect, Delayed skelet... OMIM:194190
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ri... OMIM:312150
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Retinal dystrophy, Intraut... ORPHA:353298
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Aminopterin Syndrome Sine Aminopterin
Decreased body weight, Thoracic scoliosis, Joint contracture of the hand, Macrocephaly, Short sta... OMIM:600325
Omodysplasia 2
Dislocated radial head, Micropenis, Hypospadias, Short 1st metacarpal, Short humerus, Rhizomelic ... OMIM:164745
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Mirage Syndrome
Decreased body weight, Talipes equinovarus, Hypergonadotropic hypogonadism, Hypospadias, Radial c... OMIM:617053
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Short neck, Downslanted palpebral fissures, Rhizomelia, Intrauterine growth retardati... OMIM:611209
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... ORPHA:971
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Small for gestational age, Multiple rib fractures, Osteopenia, Decreased cal... OMIM:616229
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Roifman Syndrome
Prominent eyelashes, Retinal dystrophy, Single transverse palmar crease, Downslanted palpebral fi... OMIM:616651
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Small hand, Hypogonadotropic hypogonadism, Abnormal ulnar metaphysis... ORPHA:177910
Diastrophic Dysplasia
Macrocephaly, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of f... ORPHA:628
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, Osteoporosis, Trunc... ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Cone-shaped epiphyses of the distal phalanges of the hand, Cryptorchidism, Mic... OMIM:618958
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Chromosome breakage... OMIM:609981
Lig4 Syndrome
Clinodactyly of the 5th finger, Type II diabetes mellitus, Hypoplasia of penis, Leukocytosis, Ups... ORPHA:99812
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Hemivertebrae, Down-sloping shoulders, Hypoplasia... OMIM:214800
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Hypoplasia of the femoral ... OMIM:209950
Basal Cell Nevus Syndrome
Macrocephaly, Hemivertebrae, Down-sloping shoulders, Cataract, Microphthalmia, Ovarian carcinoma,... OMIM:109400
Cohen Syndrome
Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Genu valgum, Long eye... ORPHA:193
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... ORPHA:1667
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Flexion contracture, Short stature, Microcephaly, Scoliosis, Astigmatism, ... OMIM:278760
Koolen-De Vries Syndrome
Overfriendliness, Vertebral segmentation defect, Kyphosis, Abnormal cardiac septum morphology, Bi... ORPHA:96169
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Thin ri... OMIM:253290
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Cataract, Hypoalbuminemia, Microphthalmia, Failure to ... OMIM:618805
Alg1-Cdg
Kyphosis, Scoliosis, Cardiomyopathy, Hypoalbuminemia, Progressive microcephaly, Limitation of joi... ORPHA:79327
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Abnormality of finger, Severe short stature, Hypoplasia of the radiu... ORPHA:2319
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... OMIM:249710
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Macrocephaly, Short stature, Abnormal anterior chamber morphology, Osteopenia, Microcep... ORPHA:2479
Hypomelanosis Of Ito
Kyphosis, Macrocephaly, Microcephaly, Scoliosis, Syndactyly, Epicanthus, Iris coloboma, Cataract,... OMIM:300337
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Hypoplasia of the musculature, Talipes equinovarus, Camptodactyly of fi... ORPHA:1101
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 vertebral fus... OMIM:618000
Bardet-Biedl Syndrome 5
External genital hypoplasia, Rod-cone dystrophy, Micropenis, Brachydactyly, Syndactyly, Polydacty... OMIM:615983
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Uterus didelphys, Short humerus, Micromelia,... ORPHA:2491
Cornelia De Lange Syndrome 2
Thick eyebrow, Short stature, Small hand, Microcephaly, Short neck, Brachydactyly, Highly arched ... OMIM:300590
Fanconi Anemia, Complementation Group F
Failure to thrive, Atrial septal defect, Cryptorchidism, Absent thumb, Short stature, Hypoplasia ... OMIM:603467
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Short stature, Radi... ORPHA:2725
Fanconi Anemia, Complementation Group O
Chromosome breakage, Absent thumb, Short stature, Hypoplasia of the radius, Small thenar eminence... OMIM:613390
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Genu valgum, Knee pain, Cataract, Hip subluxation, Rhi... ORPHA:93357
Vacterl With Hydrocephalus
Microphthalmia, Hypoplasia of the radius, Hemivertebrae, Anophthalmia, Abnormal form of the verte... ORPHA:3412
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Narrow pelvis bone, Short neck, Absent or minimally o... ORPHA:66637
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Intrauterine growth retardation, Failure to thrive in infancy, Abnormal heart... OMIM:610758
Focal Dermal Hypoplasia
Labial hypoplasia, Congenital hip dislocation, Clitoral hypoplasia, Optic atrophy, Umbilical hern... OMIM:305600
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... OMIM:251450
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Clubbing, Multinucleated giant chondrocyt... OMIM:108720
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... ORPHA:337
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Platyspondyly, Ru... OMIM:304120
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Hypoalbuminemia OMIM:617156
Fanconi Anemia, Complementation Group D2
Absent thumb, Hypergonadotropic hypogonadism, Complete duplication of thumb phalanx, Pancytopenia... OMIM:227646
20P13 Microdeletion Syndrome
Wide anterior fontanel, Decreased body weight, Macrocephaly, Retinopathy, Microcephaly, Brachydac... ORPHA:313781
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation, Abnorm... OMIM:600546
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Short stature, Delayed puberty, Diabet... ORPHA:100
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve... ORPHA:1802
Abetalipoproteinemia
Corneal ulceration, Osteopenia, Reticulocytosis, Cardiomegaly, Hypopigmentation of the fundus, Ab... ORPHA:14
Pelvis-Shoulder Dysplasia
Microcornea, Ambiguous genitalia, Absent proximal finger flexion creases, Talipes equinovarus, Sh... ORPHA:2839
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Rhizomelia, Short... OMIM:601438
Sifrim-Hitz-Weiss Syndrome
Macrocephaly, Tapered finger, Ventricular septal defect, Ambiguous genitalia, Short palpebral fis... OMIM:617159
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Galloway-Mowat Syndrome 3
Failure to thrive, Short stature, Arachnodactyly, Microcephaly, Camptodactyly, Downslanted palpeb... OMIM:617729
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Umbil... OMIM:265000
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Decreased body weight, Clinodactyly of the 5th finger, Relative macrocephaly, Ab... ORPHA:231140
Oculoauricular Syndrome
Morning glory anomaly, Microcornea, Cataract, Iris cyst, Microphthalmia, Microphakia, Retinal det... OMIM:612109
Cerebrooculonasal Syndrome
Macrocephaly, Sparse eyebrow, Postaxial polydactyly, Craniosynostosis, Optic nerve hypoplasia, Sp... OMIM:605627
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Retinal dystrophy, Ambiguous genita... ORPHA:2556
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short stature, Pulmonic stenosi... ORPHA:3098
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Cockayne Syndrome Type 1
Failure to thrive, Increased blood urea nitrogen, Postnatal growth retardation, Cryptorchidism, S... ORPHA:90321
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis, Anterior encephalocele OMIM:614195
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Growth delay, Cryptorchidism, Small for gestational age, Postaxial polydactyly, ... OMIM:613792
Fanconi Anemia, Complementation Group E
Neutropenia, Microphthalmia, Cryptorchidism, Absent thumb, Small for gestational age, Short statu... OMIM:600901
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... OMIM:618728
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... OMIM:601560
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Duane Retraction Syndrome
Hypoplasia of the radius, Short neck, Microcornea, Skeletal muscle atrophy, Hypoplastic iris stro... ORPHA:233
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... OMIM:186500
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal... ORPHA:90652
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Femoral bowing, Thin bony cortex, Difficulty walking, Metaphyseal irregularity, Subperiosteal bon... OMIM:264700
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of ... ORPHA:1988
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Severe short stature, Cachexia, Microcephaly, Attenuation of... OMIM:610965
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Optic atrophy, Long eyelashes, Abnormal heart morphology, Joint stiffness, Flexion co... ORPHA:505248
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Lymphopenia, Micropenis, Microcephaly, Hypoglycemia, Hypertriglyceridemia,... OMIM:617575
Fanconi Anemia, Complementation Group A
Neutropenia, Microphthalmia, Cryptorchidism, Absent thumb, Small for gestational age, Short statu... OMIM:227650
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Delayed cranial suture closure, Abnormal circul... ORPHA:95716
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Ventricular septal defect, Rocker... OMIM:301056
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Atrioventricular canal defect, Short neck, Hypermobility of interphalangeal joints... ORPHA:508498
Three M Syndrome 1
Short neck, Hypoplastic pelvis, Delayed skeletal maturation, Intrauterine growth retardation, Cli... OMIM:273750
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypoplasia of the rad... ORPHA:1307
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Decreased body weight, Short stature, Short 5th finger, Short 4th toe, Short 3... OMIM:619060
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Decreased body weight, Cryptorchidism, External genital hypoplasia, Short stature, Mic... OMIM:612947
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Thick eyebrow, Poor eye contact, Anophthalmia, Telecanthus, Long eyelashes, Synophrys ORPHA:411986
Chromosome 16Q22 Deletion Syndrome
Failure to thrive, Wide anterior fontanel, Growth delay, Short palpebral fissure, Cryptorchidism,... OMIM:614541
Alagille Syndrome
Vertebral segmentation defect, Failure to thrive, Short distal phalanx of finger, Clinodactyly of... ORPHA:52
Isolated Polycystic Liver Disease
Increased total bilirubin, Back pain ORPHA:2924
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormally ossified vertebrae, Sclerotic scapulae, Abnormal hear... ORPHA:166119
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Exudative vitreoretinopathy, Abnormal femoral neck/head morphology, Microphthalm... ORPHA:2788
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Small hand, Short stature, Prom... ORPHA:1597
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... ORPHA:239
Hypocalcemic Vitamin D-Resistant Rickets
Bone pain, Recurrent fractures, Hypophosphatemia, Hypocalcemia, Joint dislocation, Abnormal adipo... ORPHA:93160
Lamb-Shaffer Syndrome
Mild postnatal growth retardation, Abnormal social behavior, Microcephaly, Scoliosis, Optic atrop... ORPHA:530983
Temple Syndrome
Type II diabetes mellitus, Clinodactyly of the 5th finger, Relative macrocephaly, Postnatal growt... ORPHA:254516
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia OMIM:614300
Baraitser-Winter Syndrome 1
Failure to thrive, Ptosis, Bicuspid aortic valve, Aortic valve stenosis, Short stature, Micropeni... OMIM:243310
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia, Metaphyseal irregularity, Tibial b... OMIM:241530
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Abnormality of the vertebral endplates, Platyspondyly, Irregular epiphyse... ORPHA:1856
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Postaxial polydactyly, Upslanted palpebral fissure, Hypospadias, Broad distal phalanx o... OMIM:615761
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Macrocephaly, Craniosynostosis, Hemivertebrae, Short neck, Large for gestational age, Long eyelas... OMIM:213980
Desbuquois Dysplasia 2
Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Single transverse pa... OMIM:615777
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Genu valgum, Partia... OMIM:305620
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
3C Syndrome
Abnormal mitral valve morphology, Macrocephaly, Atrioventricular canal defect, Hemivertebrae, Sho... ORPHA:7
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
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
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Failure to thrive, Flexion contracture, Rod-cone dystrophy, Hypergonadotropic hypogonad... OMIM:212065
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... ORPHA:1826
Fanconi Anemia, Complementation Group D1
Failure to thrive, T-cell acute lymphoblastic leukemias, Short stature, Microcephaly, Chromosomal... OMIM:605724
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Precocious puberty, Hyponatremia, Cryptorchidism, Hyperkalemia OMIM:614736
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Short neck, Scoliosis, Genu valgum, Cubitus valgus, Short foo... ORPHA:314795
Meckel Syndrome
Anencephaly, Microcornea, Optic atrophy, Ambiguous genitalia, Cataract, Bowing of the long bones,... ORPHA:564
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Back pain OMIM:174050
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Rod-cone dystrophy, Short ribs, Short stature, Short neck, Scoliosis, Biconcave ... OMIM:610319
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Polydactyly, Hypogonadism OMIM:615988
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Clitoral hypoplasia, Narrow palm, Genu... OMIM:176270
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Codas Syndrome
Short metacarpal, Short stature, Congenital hip dislocation, Scoliosis, Abnormal form of the vert... ORPHA:1458
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Tombstone... OMIM:108721
Warburg Micro Syndrome 3
Kyphoscoliosis, Clinodactyly of the 5th finger, Shallow anterior chamber, Flexion contracture, Mi... OMIM:614222
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Catara... OMIM:607323
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Ankyloblepharon, Microphthalmia ORPHA:85275
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... ORPHA:321
Kniest Dysplasia
Enlarged joints, Platyspondyly, Short neck, Hypoplastic pelvis, Rhizomelia, Umbilical hernia, Dum... OMIM:156550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ve... OMIM:271640
Chondrodysplasia-Disorder Of Sex Development Syndrome
Increased skull ossification, Severe short stature, Male pseudohermaphroditism, Microcephaly, Mic... ORPHA:1422
Bardet-Biedl Syndrome 12
Obesity, Polydactyly, Rod-cone dystrophy, Hypogonadism OMIM:615989
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Platyspondyly, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Joint st... OMIM:608940
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Clinodactyly of the 5th finger, Craniosynostosis, Short stature, Deep palma... OMIM:619451
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Butterfly vertebrae, Talipes equinovarus, Micropenis, Small for ... OMIM:607143
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
2Q31.1 Microdeletion Syndrome
Short neck, Tapered finger, Abnormality of fibula morphology, Sandal gap, Delayed skeletal matura... ORPHA:251014
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... ORPHA:1427
Bartsocas-Papas Syndrome 1
Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Short neck, Cicatricial lagophthal... OMIM:263650
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Short stature, Hypospad... ORPHA:2522
Kbg Syndrome
Cutaneous syndactyly, Short neck, Single transverse palmar crease, Downslanted palpebral fissures... OMIM:148050
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Craniosynostosis, Deep palmar crease, Long palpebral fiss... OMIM:616580
Vitamin D-Dependent Rickets, Type 2A
Femoral bowing, Thin bony cortex, Difficulty walking, Metaphyseal irregularity, Subperiosteal bon... OMIM:277440
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Platyspondyly, Hypoplasia of the femoral head, Short humerus, Wide distal femoral me... OMIM:619598
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno... OMIM:307800
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Intrauterine growth retardation, Cryptorchidism, Hypospadias, Broad ey... ORPHA:494344
Multiple Epiphyseal Dysplasia Type 5
Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Difficulty walking, Genu... ORPHA:93311
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystrog... ORPHA:370959
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Microphthalmia, Syndromic 12
Bicornuate uterus, Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventri... OMIM:615524
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... OMIM:143095
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Mucopolysaccharidosis, Type Vii
Macrocephaly, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum, Umbil... OMIM:253220
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Osteolysis,... ORPHA:371428
Marshall Syndrome
Clinodactyly of the 5th finger, Radial bowing, Lens luxation, Short stature, Hypoplastic ilia, Pl... OMIM:154780
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Short stature, Keratoconus, Hypoalbuminemia, Decreased circulating copper conc... OMIM:242150
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Kyphoscoliosis, Growth delay, Precocious puberty, Upslanted palp... ORPHA:447980
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Accelerated skeletal maturation,... OMIM:101800
Codas Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Broad skull... OMIM:600373
Aicardi Syndrome
Hemivertebrae, Optic disc coloboma, Optic atrophy, Cataract, Microphthalmia, Block vertebrae, Spa... OMIM:304050
Seckel Syndrome 1
Cone-shaped epiphyses of the phalanges of the hand, 11 pairs of ribs, Single transverse palmar cr... OMIM:210600
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Weill-Marchesani Syndrome 2
Shallow orbits, Thin bony cortex, Ventricular septal defect, Broad skull, Iridodonesis, Cataract,... OMIM:608328
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Microcephaly, Elevated circulating creatine kinase ... OMIM:619055
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... ORPHA:2911
Slc35A2-Cdg
Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Intrauterine growth retard... ORPHA:356961
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Polydactyly, Retinal dystrophy, Hypogonadism, Obesity OMIM:615987
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Eunuchoid habitus, External genital hypoplasi... ORPHA:99330
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation ... OMIM:615990
Branchiooculofacial Syndrome
Short neck, Single transverse palmar crease, Cataract, Microphthalmia, Intrauterine growth retard... OMIM:113620
Silver-Russell Syndrome
Sandal gap, Delayed skeletal maturation, Intrauterine growth retardation, Failure to thrive in in... ORPHA:813
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
14Q22Q23 Microdeletion Syndrome
Downslanted palpebral fissures, Delayed skeletal maturation, Small scrotum, Clinodactyly of the 5... ORPHA:264200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermaphrodi... ORPHA:90791
Marden-Walker Syndrome
Short neck, Radioulnar synostosis, Microphthalmia, Intrauterine growth retardation, Talipes equin... OMIM:248700
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Delayed... ORPHA:168558
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morpholog... ORPHA:3027
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Anemia, Fractures of the long bones, Abnormal sple... ORPHA:464329
Smith-Magenis Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Precocious puberty, Short stature, Upslanted pal... ORPHA:819
Autosomal Dominant Omodysplasia
Hypoplasia of penis, Bifid scrotum, Short 1st metacarpal, Short humerus, Ambiguous genitalia, Rhi... ORPHA:93328
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... ORPHA:89842
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... ORPHA:1505
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Ventricular septal defect, Sandal gap, Intrauterine growth retardat... ORPHA:254346
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Hemivertebrae, Short neck, Downslanted palpebral fissures, Rhizomelia, Cataract, ... OMIM:302960
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Delayed... ORPHA:289548
Nevus Comedonicus Syndrome
Preaxial polydactyly, Microcephaly, Scoliosis, Spina bifida occulta, Cataract, Abnormal vertebral... ORPHA:64754
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... ORPHA:96184
Megalocornea-Mental Retardation Syndrome
Macrocephaly, Genu recurvatum, Short stature, Arachnodactyly, Osteopenia, Microcephaly, Megalocor... OMIM:249310
Bloom Syndrome
Clinodactyly of the 5th finger, Type II diabetes mellitus, Chromosome breakage, Postnatal growth ... OMIM:210900
Juvenile Polyposis Of Infancy
Macrocephaly, Atrial septal defect, Short stature, Cachexia, Freckled genitalia, Downslanted palp... ORPHA:79076
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hepatocellular necrosis, Hyperbilirubinemia, Splenomegaly, Microcephaly, Hypog... OMIM:251880
Cerebrooculonasal Syndrome
Hypoplasia of penis, Sparse eyebrow, Sparse eyelashes, Upslanted palpebral fissure, Anophthalmia,... ORPHA:66625
Oculodentodigital Dysplasia
Microcornea, Optic atrophy, Ventricular septal defect, Cataract, Umbilical hernia, Abnormal metap...