Gene Summary

Name:
ubiquitin-conjugating enzyme E2G 1
Synonyms:
2700059C12Rik,  D130023C12Rik

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
small liver Ube2g1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal auditory brainstem response Ube2g1tm1b(EUCOMM)Hmgu HOM   Early adult 1.48×10-06
abnormal joint morphology Ube2g1tm1b(EUCOMM)Hmgu HOM   Early adult 1.72×10-05
short tibia Ube2g1tm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-07
vertebral fusion Ube2g1tm1b(EUCOMM)Hmgu HOM   Early adult 2.60×10-07
male infertility Ube2g1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
fusion of vertebral arches Ube2g1tm1b(EUCOMM)Hmgu HOM   Early adult 5.70×10-06
abnormal pelvic girdle bone morphology Ube2g1tm1b(EUCOMM)Hmgu HOM Early adult 2.96×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote Ambiguous
Bone  Wholemount images homozygote Ambiguous
Brain  Wholemount images heterozygote 0.0% (0 of 4)
Brain  Wholemount images homozygote 100% (2 of 2)
Cecum  Wholemount images heterozygote Ambiguous
Cecum  Wholemount images homozygote Ambiguous
Chest bone  Wholemount images heterozygote Ambiguous
Chest bone  Wholemount images homozygote Ambiguous
Diaphragm  Wholemount images heterozygote 100% (4 of 4)
Diaphragm  Wholemount images homozygote 100% (2 of 2)
Duodenum  Wholemount images heterozygote 0.0% (0 of 4)
Duodenum  Wholemount images homozygote 0.0% (0 of 2)
Epididymis  Wholemount images heterozygote Not available
Epididymis  Wholemount images homozygote Not available
Esophagus  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images homozygote Ambiguous
Gall bladder  Wholemount images heterozygote Ambiguous
Gall bladder  Wholemount images homozygote Ambiguous
Harderian gland  Wholemount images heterozygote Ambiguous
Harderian gland  Wholemount images homozygote Ambiguous
Heart  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images homozygote 100% (2 of 2)
Ileum  Wholemount images heterozygote 0.0% (0 of 4)
Ileum  Wholemount images homozygote Ambiguous
Jejunum  Wholemount images heterozygote 0.0% (0 of 4)
Jejunum  Wholemount images homozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images homozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote Ambiguous
Large intestine  Wholemount images homozygote Ambiguous
Liver  Wholemount images heterozygote 0.0% (0 of 4)
Liver  Wholemount images homozygote 0.0% (0 of 2)
Lung  Wholemount images heterozygote 100% (4 of 4)
Lung  Wholemount images homozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Main olfactory bulb  Wholemount images homozygote Ambiguous
Mesenteric lymph node  Wholemount images heterozygote 0.0% (0 of 4)
Mesenteric lymph node  Wholemount images homozygote Ambiguous
Ovary  Wholemount images heterozygote Not available
Ovary  Wholemount images homozygote Not available
Oviduct  Wholemount images heterozygote Not available
Oviduct  Wholemount images homozygote Not available
Pancreas  Wholemount images homozygote Ambiguous
Parotid gland  Wholemount images heterozygote Ambiguous
Parotid gland  Wholemount images homozygote Ambiguous
Penis  Wholemount images homozygote Not available
Pituitary gland  Wholemount images homozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote Not available
Prostate gland  Wholemount images homozygote Not available
Quadriceps  Wholemount images heterozygote 0.0% (0 of 4)
Quadriceps  Wholemount images homozygote 0.0% (0 of 2)
Skin  Wholemount images heterozygote Ambiguous
Skin  Wholemount images homozygote 0.0% (0 of 2)
Spinal cord  Wholemount images homozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote Ambiguous
Spleen  Wholemount images homozygote Ambiguous
Stomach  Wholemount images heterozygote Ambiguous
Stomach  Wholemount images homozygote Ambiguous
Sublingual gland  Wholemount images heterozygote 0.0% (0 of 4)
Sublingual gland  Wholemount images homozygote 0.0% (0 of 2)
Submandibular gland  Wholemount images heterozygote 0.0% (0 of 4)
Submandibular gland  Wholemount images homozygote Ambiguous
Testis  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images homozygote 50% (1 of 2)
Thymus  Wholemount images homozygote 0.0% (0 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Thyroid gland  Wholemount images homozygote Ambiguous
Tongue  Wholemount images heterozygote 100% (4 of 4)
Tongue  Wholemount images homozygote 100% (2 of 2)
Urinary bladder  Wholemount images heterozygote Ambiguous
Urinary bladder  Wholemount images homozygote Ambiguous
Uterus  Wholemount images heterozygote Not available
Uterus  Wholemount images homozygote Not available
Vagina  Wholemount images heterozygote 0.0% (0 of 4)
Vagina  Wholemount images homozygote Not available
Vesicular gland  Wholemount images heterozygote Not available
Vesicular gland  Wholemount images homozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Adrenal gland N/A homozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Aorta N/A homozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brainstem N/A homozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A homozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Ambiguous
Cartilage tissue N/A homozygote Ambiguous
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A homozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A homozygote 0.0% (0 of 2)
Colon N/A heterozygote Ambiguous
Colon N/A homozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Cranium N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 4)
Eye N/A homozygote 0.0% (0 of 2)
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Gonadal fat pad N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A homozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A homozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A homozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lower urinary tract N/A homozygote Ambiguous
Lymph node N/A homozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A homozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 4)
Midbrain N/A homozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A homozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A homozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A homozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A homozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A homozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A homozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A homozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 4)
Small intestine N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A homozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 4)
Striatum N/A homozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 4)
Thalamus N/A homozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trachea N/A homozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A homozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vas deferens N/A homozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 4)
Vascular system N/A homozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A homozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (7 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Brain N/A heterozygote 100% (7 of 7)
Ear N/A heterozygote 0.0% (0 of 7)
Eye N/A heterozygote 0.0% (0 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forearm N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 0.0% (0 of 7)
Forelimb N/A heterozygote 0.0% (0 of 7)
Handplate N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 0.0% (0 of 7)
Hindbrain N/A heterozygote 100% (7 of 7)
Hindlimb N/A heterozygote 0.0% (0 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lower leg N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A heterozygote 0.0% (0 of 7)
Midbrain N/A heterozygote 0.0% (0 of 7)
Oral cavity N/A heterozygote 0.0% (0 of 7)
Skin N/A heterozygote 0.0% (0 of 7)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Upper arm N/A heterozygote 0.0% (0 of 7)
Upper leg N/A heterozygote 0.0% (0 of 7)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
chest bone Unavailable
colon 15.5% (20 of 129)
cranium
diaphragm 0.0%
duodenum 3.82% (5 of 131)
epididymis 13.08% (17 of 130)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.37% (2 of 547)
hindlimb 0.0%
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
ileum 13.33% (16 of 120)
jejunum 9.23% (12 of 130)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.34% (1 of 292)
midbrain 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
stomach pyloric region 0.0%
striatum 0.37% (2 of 547)
sublingual gland 0.0%
submandibular gland 1.5% (2 of 133)
testis 1.1% (6 of 545)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
tongue 2.38% (3 of 126)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vagina 0.0%
vas deferens 4.18% (15 of 359)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

280 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

2 Images

Human diseases caused by Ube2g1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ube2g1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... OMIM:605274
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp... ORPHA:71289
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Limitation of joint mobility, Increased bone mineral density, Abn... ORPHA:90650
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Blount Disease
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly,... ORPHA:429
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormal form of the vertebral bodies, Abnormality... ORPHA:1802
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... OMIM:618469
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... ORPHA:93308
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Knee pain, Hip subluxation, Dysplasia of the femoral head, ... ORPHA:99642
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... OMIM:142669
Distal Arthrogryposis Type 1
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... ORPHA:1146
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Hip dysplasia, Brachyd... OMIM:226900
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, EEG abnormality, Fused thoracic vertebrae, Small hand, Syndactyly, Scoli... ORPHA:1445
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Foot pain, Irregular epiphyses, Genu varum, Flattened epiphysis, Osteochond... OMIM:600204
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evok... OMIM:601382
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... ORPHA:2114
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... ORPHA:66637
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Abnormality of the ankles, Brachydactyly, Short thumb, Scoliosis, Cuboidal metac... ORPHA:968
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Knee pain, Intervert... ORPHA:166011
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Microt... OMIM:171480
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Micrognathia, Vertebral fusion, Macrotia OMIM:221950
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... OMIM:135100
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Vertebral fusion, Short long bone, Sacral dimple OMIM:618845
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Dysspondyloenchondromatosis
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Knee dislocation, Scoliosis, Hammertoe, Hip dislocation, Hip dysplasia ORPHA:370943
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Glenoid fossa hypoplasi... ORPHA:85170
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
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
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Missing ribs, Block vertebrae... OMIM:613686
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Osteochondritis Dissecans
Joint swelling, Joint stiffness, Quadriceps muscle atrophy, Decreased hip abduction, Abnormal mus... ORPHA:2764
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... ORPHA:166002
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Abnormal... ORPHA:2345
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Verheij Syndrome
Hemivertebrae, Short neck, Short 5th finger, Scoliosis, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Overfolded helix, Camptodactyly of f... ORPHA:2631
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger,... ORPHA:3320
Atelosteogenesis Type Iii
Abnormality of the humerus, Hand clenching, Patellar dislocation, Elbow dislocation, Talipes equi... ORPHA:56305
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Missing ribs, Vertebral... OMIM:122600
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis OMIM:615612
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Wildervanck Syndrome
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema OMIM:314600
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Short neck, Platyspondyly, Abnormal joint morphol... ORPHA:485
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Aase-Smith Syndrome
Joint stiffness, Abnormal pinna morphology, Multiple joint contractures, Talipes equinovarus, Sle... ORPHA:916
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Short metatarsal, Genu recur... OMIM:151200
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... OMIM:214300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... ORPHA:2639
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Low-set, posteriorly... ORPHA:2370
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno... OMIM:613330
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... OMIM:184460
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... ORPHA:63442
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
Coxoauricular Syndrome
Abnormality of femur morphology, Microtia, Reduced bone mineral density, Micromelia, Atresia of t... ORPHA:1508
Thoracomelic Dysplasia
Short ribs, Short neck, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu v... ORPHA:1803
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Back pain, Osteoart... ORPHA:93311
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bo... ORPHA:2916
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Kbg Syndrome
Delayed skeletal maturation, EEG abnormality, Cutaneous syndactyly, Short neck, Bilateral conduct... ORPHA:2332
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:118100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Synosto... ORPHA:93351
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Hepat... OMIM:602557
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital femoral epiphy... OMIM:601560
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Delayed epiphyseal ossification, Fragmented epiphys... ORPHA:166016
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Ver... OMIM:606612
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar de... ORPHA:2928
Asymmetric Short Stature Syndrome
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb OMIM:108450
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Genu recurvatum, Abnormal vertebral segmentation and fusion, Smal... ORPHA:915
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... OMIM:312150
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Slc35A2-Cdg
Sensorineural hearing impairment, Talipes equinovarus, Joint hypermobility, Craniosynostosis, EEG... ORPHA:356961
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:93359
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Palmoplanta... ORPHA:2206
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Hemivertebrae, Brachydactyly, Scoliosis, Vertebral... ORPHA:377
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Multiple Epiphyseal Dysplasia Type 4
Abnormal pinna morphology, Short metacarpal, Accelerated skeletal maturation, Arthralgia of the h... ORPHA:93307
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proxim... OMIM:601559
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... ORPHA:1837
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Lumbar hyperlordosis, Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis... ORPHA:313892
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Micrognathia, Abnormal cervical curvat... OMIM:253290
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, M... ORPHA:1988
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Short neck... OMIM:251230
Proximal Symphalangism
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndact... ORPHA:3250
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Micrognat... OMIM:108721
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation, Large ea... ORPHA:1106
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphy... ORPHA:1427
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Protruding ear, Adducted thumb, Abnormal hip bone... ORPHA:1147
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Hypoplasia of the ulna, Flared femora... ORPHA:85188
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spondylocarpotarsal Synostosis Syndrome
Short neck, Block vertebrae, Delayed skeletal maturation, Vertebral segmentation defect, Carpal s... OMIM:272460
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Cubitus val... ORPHA:314795
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Low-set, posteriorl... ORPHA:2725
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... OMIM:607143
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... OMIM:112350
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... ORPHA:970
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... OMIM:108720
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... ORPHA:3456
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... OMIM:201050
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Fused cervical v... ORPHA:2522
Auriculoosteodysplasia
Attached earlobe, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of... ORPHA:114
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... ORPHA:239
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... OMIM:305620
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Slender fi... OMIM:609813
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Radioulnar... OMIM:164900
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Micrognathia, Short neck, Thoracolumbar sco... OMIM:616549
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Acromesomelic Dysplasia 3
Delayed skeletal maturation, Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes... OMIM:609441
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... OMIM:609945
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Vertebral segmentation... ORPHA:959
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Thickened Achilles tendon, Arthritis, Limitation of k... OMIM:203500
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Short neck, Rocker bottom foot, Joint dislocation, Talipes equinov... OMIM:193700
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Charcot-Marie-Tooth Disease, Type 4C
Talipes equinovarus, Decreased motor nerve conduction velocity, Facial palsy, Pes cavus, Scoliosi... OMIM:601596
Omodysplasia 1
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Short tibia, Sh... OMIM:258315
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Lamb-Shaffer Syndrome
Micrognathia, Scoliosis, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia ORPHA:530983
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... ORPHA:3027
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Bowing of the long bones, Elbow dislocation, Carpal synostosis, Increa... ORPHA:90652
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones OMIM:138930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... OMIM:607155
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Distal Monosomy 17Q
Hepatomegaly, Microtia, Abnormal hip bone morphology, Small hand, Prominent metopic ridge, Microm... ORPHA:1597
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermobility, Gener... OMIM:618000
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
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... ORPHA:1826
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Broad phalanx, Metaphyseal dysplasia, Bowing of the legs, Aplasia/... ORPHA:2502
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Microtia, Micrognathia, Abnormal form of the vertebral bodies, A... ORPHA:3429
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormality of the vertebral column, Abnormal auditory evoked p... OMIM:109120
Kniest Dysplasia
Enlarged joints, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Dumbbell-shaped long ... OMIM:156550
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Hypoplasia of the ovary, Abnormal metaphysis morphol... ORPHA:3130
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the distal phalanx of... OMIM:268310
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Codas Syndrome
Sensorineural hearing impairment, Coronal cleft vertebrae, Overfolded helix, Congenital hip dislo... ORPHA:1458
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture OMIM:607278
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal motor evoked potentials, Pes cavus, Abnormal auditory ... ORPHA:320401
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocke... OMIM:265000
Jeune Syndrome
Cone-shaped epiphysis, Brachydactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot poly... ORPHA:474
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... ORPHA:198
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Lateral Meningocele Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Sclerosis of sku... OMIM:130720
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Talipes equinovarus, Postaxial polydactyly, Pr... OMIM:613091
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Microt... ORPHA:1788
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Grant Syndrome
Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Wormia... ORPHA:2097
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Narrow greater sciatic notch, Microtia, Postaxial polydactyly, Preaxia... OMIM:617925
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Kyphosis, Micrognathia, Decreased calvarial ossification, Bow... OMIM:259420
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Low-set, posteriorly... ORPHA:1486
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:3109
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Hypogonadotropic hypogonadism, Cupped ear, Wormian bones, Tapered finger, Short ... OMIM:617159
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Talipes cavus equinovarus, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Protruding ear, Overfolded helix, Arachnodactyly, Scolio... ORPHA:96169
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... ORPHA:958
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Irregular epiphyses, Biconcave vertebral bodies, Scoliosis, Opt... OMIM:619260
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Fibrochondrogenesis 1
Abnormal pinna morphology, Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Shor... OMIM:228520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Delayed epiphysea... OMIM:600081
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Pancreatic fibrosis, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot, ... OMIM:263520
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... OMIM:307800
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Microtia, Down-sloping shoulders, Syndactyly, Camptodactyly, Shor... OMIM:227330
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Low-set ears, Small abnormally formed scapulae, Tibial bowing... ORPHA:140
Cousin Syndrome
Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5... OMIM:260660
Kbg Syndrome
Delayed skeletal maturation, Protruding ear, Clinodactyly of the 5th finger, Ulnar deviation of t... OMIM:148050
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, S... OMIM:607323
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Sh... OMIM:609053
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Missing ribs, Block ve... OMIM:271520
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Joint hypermobility, Overf... OMIM:610443
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Kyphoscoliosis, Short ribs, Hemivertebrae, Down-sloping should... OMIM:109400
Duane Retraction Syndrome
Sensorineural hearing impairment, Talipes equinovarus, Abnormal vertebral segmentation and fusion... ORPHA:233
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Craniosynostosis, Short 1st metacarpal, Tapered finger, Ulnar deviatio... ORPHA:949
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Myhre Syndrome
Low-set ears, Overlapping toe, Short toe, 2-3 toe syndactyly, Joint stiffness, Limitation of join... OMIM:139210
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Short toe, Talipes equinovarus, Micrognathia... ORPHA:171929
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Exocrine pancreatic insufficiency, Short neck, Broad hallux, Hypermobility of inte... ORPHA:508498
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Micrognathia, Campt... ORPHA:1323
Larsen Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Large joint dislocations, Vertebra... ORPHA:503
Cartilage-Hair Hypoplasia
Hepatomegaly, Accelerated skeletal maturation, Abnormally ossified vertebrae, Short neck, Microme... ORPHA:175
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Accelerated skeletal maturation, Hepatomegaly, Hepatoblastoma, Congeni... ORPHA:373
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... OMIM:143095
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Optic atrophy, Genu va... ORPHA:1328
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... OMIM:211350
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Cranial nerve compression, Abnormality of the eleventh cranial n... ORPHA:268882
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Hepatomegaly, Splenomegaly, Osteopenia, Fused cervical vertebrae, ... OMIM:612852
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... ORPHA:3035
Hypocalcemic Vitamin D-Resistant Rickets
Bone pain, Recurrent fractures, Joint dislocation, Abnormal hip bone morphology, Scoliosis, Genu ... ORPHA:93160
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed ossification of carpal bones, Delayed tarsa... OMIM:600002
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Hand polydactyly, Micr... OMIM:200980
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ...