Gene Summary

Name:
PR domain containing 14
Synonyms:
N/A

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
increased total body fat amount Prdm14em1(IMPC)Bay HOM Early adult 7.03×10-11
abnormal rib morphology Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 3.40×10-05
decreased bone mineral density Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.64×10-26
increased total body fat amount Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.93×10-08
male infertility Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased bone mineral content Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 1.19×10-18
decreased lean body mass Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 5.75×10-05
female infertility Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 0.00
hyperactivity Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 1.24×10-07
abnormal bone structure Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 5.06×10-07
male infertility Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Prdm14em1(IMPC)Bay HOM   Early adult 0.00
increased total body fat amount Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.33×10-12
decreased bone mineral density Prdm14em1(IMPC)Bay HOM Early adult 3.54×10-17
decreased bone mineral content Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.57×10-16
decreased lean body mass Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 3.24×10-09
abnormal bone structure Prdm14em1(IMPC)Bay HOM Early adult 3.99×10-05
abnormal bone structure Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 1.26×10-07
impaired glucose tolerance Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 6.52×10-07
decreased bone mineral density Prdm14tm1b(EUCOMM)Wtsi HOM Early adult 2.17×10-22
decreased bone mineral content Prdm14em1(IMPC)Bay HOM Early adult 1.75×10-11
decreased lean body mass Prdm14em1(IMPC)Bay HOM Early adult 1.43×10-07
short tibia Prdm14tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Testis N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

31 Images

X-ray

XRay Images Forepaw

31 Images

Histopathology

Images

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

31 Images

Eye Morphology

VIP of right fundus

1 Images

Eye Morphology

VIP of right eye

1 Images

Eye Morphology

VIP of left eye

1 Images

Eye Morphology

VIP of left fundus

1 Images

Human diseases caused by Prdm14 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 Prdm14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Radial deviation of finger, Clinodactyly, Hyperactivity, Osteopenia, Micro... OMIM:608747
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... OMIM:612310
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fracture, Micrognathia, El... OMIM:601559
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Immunodeficiency 8
Hyperactivity OMIM:615401
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Joint hypermobility, Craniosynostosis, Abnormality of... ORPHA:356961
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Gout, Diabetes mellitus OMIM:610947
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the ribs, Radioulnar synostosis ORPHA:3268
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Forearm undergrowth, Absent radius, Tali... OMIM:251230
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Primary amenorrhea, Osteopenia OMIM:615363
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:600081
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Narrow chest, Abnormal cortical bone m... ORPHA:2635
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Classic Galactosemia
Osteoporosis, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea, Gait imbalance,... ORPHA:79239
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Small for gestational age, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormality of the ribs ORPHA:1513
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion OMIM:136580
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Knee osteoarthri... ORPHA:93356
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Abnormality of the metacarpal bones, Sandal gap, Micrognathia, Po... ORPHA:1106
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Thickened ribs, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Short toe, Tarsal synostosis, Short phalanx of fin... OMIM:609441
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Flexion contracture, 2-3 toe sy... OMIM:616809
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short foot, Small hand, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... OMIM:606721
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Joint stiffness, Undulat... ORPHA:1801
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint hyperflexibility, Sprengel anomaly, Abnorma... ORPHA:2097
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Femoral-Facial Syndrome
Hip dysplasia, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, ... ORPHA:1988
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Hypoplasia of the odontoid proces... OMIM:250215
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Femoral bowing, Flared iliac wing, Rhizomelia, Metaphysea... OMIM:602111
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Insulin resistance, Hypoglycemia, Clinodactyly of the 5th finger, Truncal obesity, ... ORPHA:73272
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Achondrogenesis Type 1B
Short thorax, Narrow chest, Abnormal enchondral ossification, Umbilical hernia, Femoral hernia, A... ORPHA:93298
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Hyperactivity, Clinodactyly of the 5th... OMIM:609425
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Limited e... OMIM:258315
Ck Syndrome
Slender build, Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Decreased calvarial ossification, Pectus excavatum, Recurrent fractures, Beaded... OMIM:259440
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... OMIM:614008
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets,... OMIM:307800
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:241530
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... OMIM:264700
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Aromatase Deficiency
Osteoporosis, Genu valgum, Insulin resistance, Hypergonadotropic hypogonadism, Primary amenorrhea... ORPHA:91
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, ... ORPHA:198
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Superior rib anomalies, Male hypogonadism OMIM:307500
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Subperiosteal bone resorption, Enam... OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300554
Achondrogenesis Type 1A
Short thorax, Narrow chest, Abnormal enchondral ossification, Recurrent fractures, Umbilical hern... ORPHA:93299
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Omphalocele, Decreased skull ossification, Abnormalit... ORPHA:93267
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Limited elbow extension, Genu valgum, Rhizomelia, Short lon... ORPHA:239
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Short ribs, Narrow chest OMIM:618188
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpal, Hyperactivity... OMIM:614613
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Hyperact... ORPHA:248111
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Interphalangeal joint con... ORPHA:96334
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Abnormally ossified vertebra... ORPHA:3035
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... OMIM:227270
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic ... OMIM:617925
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Ataxia,... ORPHA:363400
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Hyperostosis, Thin ribs, Asymmetry of the thorax, Increased susceptibili... OMIM:604922
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Cooper-Jabs Syndrome
Camptodactyly of finger, Joint hyperflexibility, Umbilical hernia, Reduced bone mineral density, ... ORPHA:1488
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... OMIM:615633
Ck Syndrome
Slender build, Joint hypermobility, Microretrognathia, Long toe, Hyperactivity, Long fingers ORPHA:251383
Dent Disease 1
Bulging epiphyses, Fibular bowing, Enlargement of the ankles, Metaphyseal irregularity, Rickets, ... OMIM:300009
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Synostosis of carpal bones, Pectus carinatum, Abnormality of the ribs, Osteoarthrit... ORPHA:93351
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Narrow chest, Failure to thrive ORPHA:1703
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foo... OMIM:236640
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Rib fusion OMIM:609813
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... ORPHA:2772
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Enamel hypoplasia, Subperiosteal bone resorption, Rickets, Difficulty ... ORPHA:289157
Achondrogenesis, Type Ia
Abnormal hand bone ossification, Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Short ri... OMIM:200600
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Hyperactivity ORPHA:100973
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Joint laxity, Pes planus, Short foot, Sandal gap, Small hand, Pes cavus, Abdominal o... OMIM:300354
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased fertility, Abnormality of the ribs, Hypogonadism, Eunuchoid habitus, Obesity ORPHA:2234
Mental Retardation, Autosomal Dominant 43
Tapered finger, Hyperactivity OMIM:616977
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Hypophosphatasia
Craniosynostosis, Narrow chest, Recurrent fractures, Failure to thrive in infancy, Abnormality of... ORPHA:436
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... ORPHA:1427
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Osteogenesis Imperfecta, Type Ii
Broad long bones, Recurrent fractures, Absent ossification of calvaria, Crumpled long bones, Tibi... OMIM:166210
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs, Recurrent fractures, Limitation of joint mobility, Abnormal cortical bon... ORPHA:1486
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Hyperactivity, Obesity OMIM:617752
Coffin-Siris Syndrome 7
Hyperactivity, Clinodactyly, Brachydactyly, Sagittal craniosynostosis OMIM:618027
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Female infertility, Premature ovari... OMIM:110100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Vertebral fusion, Abnormality of the ribs, Block vertebrae, Missing ribs OMIM:613686
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Beaded ribs, Small for gestational age, Joint hypermobility OMIM:616229
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of sc... OMIM:602196
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Alazami-Yuan Syndrome
Broad hallux, Hyperactivity OMIM:617126
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
47,Xyy Syndrome
Cryptorchidism, Azoospermia, Oligospermia, Macroorchidism, Hypospadias, Male infertility, Micrope... ORPHA:8
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Rubinstein-Taybi Syndrome 2
Broad thumb, Broad hallux, Syndactyly, Hyperactivity, Micrognathia OMIM:613684
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Narrow chest ORPHA:1354
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Congenital hip dislocation, Short metatarsal, Omphaloc... OMIM:304120
Diastrophic Dwarfism
Abnormal clavicle morphology, Camptodactyly of finger, Joint hyperflexibility, Increased bone min... ORPHA:628
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Type II diabetes mellitus, Ulnar bowing, Narro... OMIM:210720
Mental Retardation, Autosomal Recessive 61
Talipes equinovarus, Tapered finger, Pes cavus, Hyperactivity OMIM:617773
Melnick-Needles Syndrome
Short thorax, Narrow chest, Craniofacial hyperostosis, Joint hyperflexibility, Omphalocele, Abnor... ORPHA:2484
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Decreased calvarial ossification, Recurrent fractures, Severe generalized os... OMIM:259420
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Toe syndactyly, Broad-based gait, Joint hyperflexibility, Down-sloping s... ORPHA:85293
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Foot oligodactyly... OMIM:206920
Gand Syndrome
Hyperactivity, Long toe, Long fingers OMIM:615074
Congenital Disorder Of Glycosylation, Type Iig
Abnormality of the ribs, Osteopenia, Camptodactyly, Failure to thrive in infancy OMIM:611209
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal pelvis bone morphology, Gait disturbance, Fibrous dyspl... ORPHA:352540
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis, Decreased body weight OMIM:618265
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Umbilical hernia, Thin ribs, Generalized ... OMIM:617952
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Sandal gap, Clinodactyly, Small hand, Short foot, Hyperactivity, Tapered finger OMIM:618089
Osteogenesis Imperfecta, Type Viii
Radial bowing, Joint laxity, Externally rotated/abducted legs, Recurrent fractures, Tibial bowing... OMIM:610915
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic ric... ORPHA:289176
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, 2-3 toe syndactyly, Hernia, Hyperactivity, Talipes equinovarus, Hypogonadism... ORPHA:3306
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Pectus carinatum, Abnormality of the ribs, Limitation of joint mobilit... ORPHA:3068
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Chromosome 2Q37 Deletion Syndrome
Short metatarsal, Short phalanx of finger, Short metacarpal, Short toe, Hyperactivity, Obesity OMIM:600430
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Flexion contracture, Short ribs, Fractured radius, Multiple pre... OMIM:616897
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Hypoplas... OMIM:114290
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Ab... ORPHA:2345
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Broad ribs, Flaring of rib cage, Failure to thrive in infancy, Osteopeni... OMIM:612852
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, Microretrognathia, 2-3 toe syndactyly, Hyperac... OMIM:300960
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Short ribs, Interphalangeal joint contracture of finger, Knee... ORPHA:1145
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Failure to thrive, Hyperactivity, Abnormal foot morphology, Broad-based gait OMIM:617865
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Joint stiffness, Cachexia, Abnormality of the ribs ORPHA:3242
Seckel Syndrome 1
Enamel hypoplasia, Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Ab... OMIM:210600
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Attention deficit hyperactivity ... OMIM:614294
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin ribs, Decreased skull ossification, Calvarial os... ORPHA:93324
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Mucopolysaccharidosis Type 4
Short thorax, Abnormal dental enamel morphology, Pectus carinatum, Joint hyperflexibility, Grayis... ORPHA:582
Autosomal Dominant Spondylocostal Dysostosis
Abnormality of the ribs, Short thorax, Posterior rib fusion, Missing ribs ORPHA:1797
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Craniosynostosis ORPHA:2145
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Azoospermia ORPHA:2578
Becker Nevus Syndrome
Pectus carinatum, Pectus excavatum, Lipoatrophy, Rib fusion, Supernumerary ribs ORPHA:64755
Thoracolaryngopelvic Dysplasia
Slender build, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal junctions OMIM:187760
Tibial Hemimelia
Absent tibia OMIM:275220
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity ORPHA:411515
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Bowing of the long bones, Recurren... ORPHA:140
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest OMIM:151210
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Fail... ORPHA:412035
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
19P13.3 Microduplication Syndrome
Osteoporosis, Hip dysplasia, Hip subluxation, Clinodactyly, Pes cavus, Hyperactivity, Hip disloca... ORPHA:447980
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Irregula... ORPHA:90793
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Pectus excavatum, Dentinogenesis imperfecta, Thin ribs, Coronal cran... OMIM:616294
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Tibial bowing, Increased susceptibility to frac... OMIM:231070
Achondrogenesis, Type Ii
Horizontal ribs, Barrel-shaped chest, Absent vertebral body mineralization, Short ribs OMIM:200610
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Joint laxity, Broad-based gait, Hyperactivity ORPHA:457260
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
White Forelock With Malformations
Abnormality of the ribs, Joint hyperflexibility, Sprengel anomaly ORPHA:2475
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Synostosis of carpal b... ORPHA:90652
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Joint hypermobility, Amelogenesis imperfecta, Congenital hip dislocation, Redu... OMIM:617052
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Hypoplastic scapulae, Bell-shaped thorax, Omph... ORPHA:2021
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ribs, Pectus excavatum, Fused cervical vertebrae, Abnormal clavicle morphology ORPHA:2522
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ribs, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones ORPHA:1836
Dysosteosclerosis
Sclerosis of hand bone, Broad ribs, Narrow chest, Short sternum, Short ribs, Clavicular sclerosis... OMIM:224300
Kenny-Caffey Syndrome, Type 1
Thin ribs, Decreased skull ossification, Calvarial osteosclerosis, Long clavicles, Thin clavicles OMIM:244460
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Enamel hypoplasia ORPHA:2643
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Dense calvaria, Hyperactivity OMIM:252900
Osteogenesis Imperfecta, Type X
Broad ribs, Joint laxity, Narrow chest, Generalized joint laxity, Dentinogenesis imperfecta, Thin... OMIM:613848
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Decreased skull ossification, 11 pairs of ribs OMIM:300863
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Ataxia, Small for gestational age, Hyperactivity,... OMIM:614104
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
X-Linked Hypophosphatemia
Craniosynostosis, Cellulitis, Rickets, Beaded ribs, Generalized osteosclerosis, Enthesitis, Odont... ORPHA:89936
Fragile X Syndrome
Pes planus, Joint laxity, Hyperactivity OMIM:300624
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of the ribs, Sprengel anomaly, Abnormal dental enamel morphology, Obesity ORPHA:2180
Mental Retardation, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Sandal gap OMIM:615516
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Mucopolysaccharidosis, Type Iiic
Hernia, Joint stiffness, Dense calvaria, Hyperactivity OMIM:252930
Cat-Eye Syndrome
Abnormality of the ribs ORPHA:195
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow chest, Recurrent fractures, Elbow ankylosis, Jo... ORPHA:83
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Shuffling gait, Obesity ORPHA:3077
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormality of the ribs, Osteolysis, Patchy reduction of bone miner... ORPHA:249
Prune Belly Syndrome
Abnormality of the ribs, Decreased fertility, Pectus excavatum, Failure to thrive ORPHA:2970
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Azoospermia OMIM:601076
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis, Finger syndactyly, Deep plantar creases, Sa... ORPHA:254346
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Omphalocele, Short ribs OMIM:617895
3M Syndrome
Short thorax, Scapular winging, Abnormal dental enamel morphology, Enlarged thorax, Joint hyperfl... ORPHA:2616
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Thin bony cortex, Increased bone mineral density ORPHA:85184
Osteogenesis Imperfecta, Type Xv
Thin ribs, Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures OMIM:615220
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs OMIM:173800
2Q23.1 Microdeletion Syndrome
Hip dysplasia, Ataxia, Sandal gap, Hyperactivity, Clinodactyly of the 5th finger, Short palm ORPHA:228402
Cri-Du-Chat Syndrome
Short metatarsal, Microretrognathia, Pes planus, Difficulty walking, Metatarsus adductus, Syndact... OMIM:123450
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... ORPHA:90796
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Failure to thrive, Hyperactivity OMIM:619239
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Rudimentary fibula, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Craniosynostosis, Toe syndactyly, Radial deviation of finger, Clinodacty... OMIM:609625
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Clcn4-Related X-Linked Intellectual Disability Syndrome
Pes planus, Progressive cerebellar ataxia, Unsteady gait, Inguinal hernia, Hyperactivity ORPHA:485350
Holt-Oram Syndrome
Abnormal clavicle morphology, Radioulnar synostosis, Pectus excavatum, Sprengel anomaly, Down-slo... ORPHA:392
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Abnormal bone ossification, Narrow chest, Abnormal thorax morp... ORPHA:73230
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scapular winging, Partial fusion of tarsals, Partial fusion of carpals, ... OMIM:305620
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Abnormal bone ossification, Pectus excavatum, Thin ribs, Loss of truncal sub... ORPHA:2463
Lamb-Shaffer Syndrome
Hip dysplasia, Ataxia, Hyperactivity, Micrognathia, Fused cervical vertebrae ORPHA:530983
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Limited elbow flexion/extension, Contractures involving t... ORPHA:166108
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the ribs, Joint hyperflexibility, Missing ribs ORPHA:2759
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Block vertebrae, Rib fusion OMIM:277300
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Dense calvaria, Hyperactivity OMIM:252920
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Rib segmentation abnormalities, Rib fusion, Umbilical hern... ORPHA:2311
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144