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Gene: Nsun2 MGI:107252

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Gene Summary

Name:
NOL1/NOP2/Sun domain family member 2
Synonyms:
Misu

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to new environment Nsun2tm1a(EUCOMM)Wtsi HET   Early adult 1.08×10-05
abnormal eye size Nsun2tm1a(EUCOMM)Wtsi HOM   Early adult 6.11×10-05
decreased body weight Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal joint morphology Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 5.18×10-05
excessive tearing Nsun2tm1a(EUCOMM)Wtsi HET Early adult 6.89×10-05
abnormal tooth morphology Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 6.39×10-05
abnormal gait Nsun2tm1a(EUCOMM)Wtsi HOM   Early adult 7.94×10-05
abnormal gait Nsun2tm1a(EUCOMM)Wtsi HET   Early adult 6.53×10-05
abnormal cornea morphology Nsun2tm1a(EUCOMM)Wtsi HOM   Early adult 1.18×10-06
abnormal snout morphology Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 3.37×10-05
abnormal cranium morphology Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 6.13×10-06
abnormal humerus morphology Nsun2tm1a(EUCOMM)Wtsi HOM Early adult 3.08×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 83.33% (5 of 6)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 6)
Bone N/A heterozygote 83.33% (5 of 6)
Brain N/A heterozygote 100% (6 of 6)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 6)
Cartilage tissue N/A heterozygote 83.33% (5 of 6)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 83.33% (5 of 6)
Gall bladder N/A heterozygote 33.33% (2 of 6)
Heart N/A heterozygote 83.33% (5 of 6)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (6 of 6)
Large intestine N/A heterozygote 83.33% (5 of 6)
Liver N/A heterozygote 50% (3 of 6)
Lower urinary tract N/A heterozygote 100% (6 of 6)
Lung N/A heterozygote 83.33% (5 of 6)
Lymph node N/A heterozygote 83.33% (5 of 6)
Mammary gland N/A heterozygote 0.0% (0 of 6)
Esophagus N/A heterozygote 100% (6 of 6)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (3 of 6)
Oviduct N/A heterozygote 50% (3 of 6)
Pancreas N/A heterozygote 100% (6 of 6)
Parathyroid gland N/A heterozygote 66.67% (4 of 6)
Peripheral nervous system N/A heterozygote 83.33% (5 of 6)
Peyer's patch N/A heterozygote 66.67% (4 of 6)
Pituitary gland N/A heterozygote 33.33% (2 of 6)
Prostate gland N/A heterozygote 50% (3 of 6)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 6)
Skin N/A heterozygote 100% (6 of 6)
Small intestine N/A heterozygote 83.33% (5 of 6)
Spinal cord N/A heterozygote 100% (6 of 6)
Spleen N/A heterozygote 66.67% (4 of 6)
Stomach N/A heterozygote 100% (6 of 6)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (2 of 6)
Thymus N/A heterozygote 83.33% (5 of 6)
Thyroid gland N/A heterozygote 66.67% (4 of 6)
Trachea N/A heterozygote 83.33% (5 of 6)
Uterus N/A heterozygote 50% (3 of 6)
White adipose tissue N/A heterozygote 0.0% (0 of 6)
No Embryo expression data was found for this gene.

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

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

Associated Images

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

Histopathology

Images

28 Images

View images
Legacy Phenotype Associated Images
Nsun2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI

View all 268 images

Nsun2tm1a(EUCOMM)Wtsi
eye, abnormal cornea morphology, corneal opacity, corneal vascularization, HOM, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
eye, corneal opacity, abnormal cornea morphology, HOM, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
eye, abnormal cornea morphology, narrow eye opening, excessive tearing, HOM, Male, WTSI
Nsun2tm1a(EUCOMM)Wtsi
eye, corneal vascularization, narrow eye opening, corneal opacity, corneal ulcer, HOM, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
eye, eyelids fail to open, HET, Female, WTSI

View all 6 images

Nsun2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI
Nsun2tm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HOM, Female, WTSI

Human diseases caused by Nsun2 mutations

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

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

The table below shows human diseases associated to Nsun2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... ORPHA:235
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Elevated circulating creatine kinase concentration, 4-5 toe syndactyly... OMIM:611091

The table below shows human diseases predicted to be associated to Nsun2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... ORPHA:2501
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Cognitive impairment ORPHA:1484
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b... ORPHA:202
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Cortisone Reductase Deficiency 1
Alopecia, Infertility, Hirsutism, Oligomenorrhea OMIM:604931
Mucolipidosis Type Iii
Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Hyperlordosis, Joint stiffness, Abno... ORPHA:577
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at... OMIM:262000
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration... OMIM:255800
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyp... OMIM:617404
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Hyp... ORPHA:3085
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer fl... OMIM:610539
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con... ORPHA:1159
L-Ferritin Deficiency
Alopecia OMIM:615604
Ck Syndrome
Hyperactivity, Dental crowding, Hyperlordosis, Aggressive behavior, Kyphosis, Micrognathia, Abnor... OMIM:300831
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb... OMIM:600175
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlor... OMIM:615761
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Ck Syndrome
Long toe, Microretrognathia, Hyperactivity, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis... ORPHA:251383
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Candidiasis, Familial, 1
Alopecia OMIM:114580
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... ORPHA:536516
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Osteoporosis, ... ORPHA:408
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Small for gestational age, Dental crowding, Oral-pharyngeal... OMIM:610883
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, External genital hypoplasia, Patellar hypoplasia, Thorac... ORPHA:3041
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Joint laxity, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... OMIM:600561
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl... ORPHA:2905
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ach... OMIM:615290
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Hyperlordo... ORPHA:1387
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Decreased b... OMIM:253010
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m... ORPHA:99642
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... OMIM:255600
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Short neck, Micrognathia, Coxa va... ORPHA:800
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Mucolipidosis Iii Gamma
Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Hyperlordosis, Flat cap... OMIM:252605
Corneal Dystrophy, Meesmann, 1
Epiphora OMIM:122100
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Scoliosis, Low... ORPHA:2310
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Short philtru... ORPHA:79324
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Hernia, Abnormal dental enamel morph... ORPHA:582
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, C... OMIM:277950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Oliver-Mcfarlane Syndrome
Alopecia, Hypogonadotropic hypogonadism, Long eyebrows, Cryptorchidism, Long eyelashes, Sparse hair OMIM:275400
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Elevated creatine kin... ORPHA:352470
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age, Kyphosis, Congenital bilateral hip dislocatio... ORPHA:85288
Kerion Celsi
Alopecia ORPHA:499
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Congenital foot contractures, Knee flexion contracture, Na... OMIM:602484
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Hyperlordosis, Abnormality of the dentition, Wide nasal bri... ORPHA:557003
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Hyperhid... ORPHA:970
Alpha-Mannosidosis
Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Hepatomegaly, ... ORPHA:61
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... OMIM:616007
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypospadias, Increased circulating farnesol concentration, Bilatera... OMIM:618156
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, High palate, Scoliosis, Dysphagia, Arthrogryposis multiplex conge... OMIM:161800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism ORPHA:2574
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Reduced bone mineral density, Del... OMIM:618392
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormality of th... ORPHA:2511
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating cre... OMIM:614727
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ankle flexion contracture ORPHA:280333
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Narrow mouth, Flexion contracture, Cleft palate, Congenital contr... OMIM:256030
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, H... ORPHA:267
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... ORPHA:1328
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Flexion contra... OMIM:613156
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... ORPHA:97244
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hip dysplasia, Flexion contracture, Congenital foot contraction deformities, Hyperlordosis ORPHA:363454
Familial Anetoderma
Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Generalized joint laxity, Abnorma... ORPHA:228277
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dysphagia OMIM:617054
Gm1 Gangliosidosis
Mandibular prognathia, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activi... ORPHA:354
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Micrognathia, Kyphosis, Abnormal repet... ORPHA:352490
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... ORPHA:363417
Keratoendotheliitis Fugax Hereditaria
Epiphora OMIM:148200
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hyperlordosis, Hypoplasia of the odon... OMIM:184250
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Lipodystrophy, Elevated circulating creatine kinase concentration, Diabetes... OMIM:615980
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosy... OMIM:619451
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increase... ORPHA:52430
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Scoliosis OMIM:616756
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... OMIM:615381
Three M Syndrome 1
Joint dislocation, Mandibular prognathia, Small for gestational age, Hypospadias, Short neck, Hyp... OMIM:273750
Nemaline Myopathy 5C, Autosomal Dominant
Hyperlordosis, Achilles tendon contracture, High palate, Scoliosis, Dysphagia, Slender build OMIM:620389
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, High palate, Cubitus valgus, C... OMIM:610313
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios... ORPHA:3319
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture OMIM:611225
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypoglycemia, Camptodactyly of finger, Hypogonadotropic hypogonadism, Micrognathia, Mal... ORPHA:48431
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, I... OMIM:616817
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, External genital hypoplasia, Short neck, Micrognathia, Generalized j... ORPHA:251028
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh... OMIM:212720
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ... OMIM:242900
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Cryptorchidism, Long eyelashes, Hypogonadism, Sparse hair ORPHA:3363
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... ORPHA:2791
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... ORPHA:2616
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Inguinal hernia, Rhiz... OMIM:222765
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom... OMIM:226980
Congenital Myopathy 16
Lumbar hyperlordosis, Micrognathia, Spinal rigidity, Flexion contracture, High palate, Scoliosis,... OMIM:618524
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Type I diabetes mellitus, Anemia ORPHA:1192
1Q21.1 Microduplication Syndrome
Cataract, Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Talipes equinovarus, Atten... ORPHA:250994
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contracture, Cutaneous finger ... OMIM:114300
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Pseudodiastrophic Dysplasia
Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow disl... OMIM:264180
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Cataract, Hyperlordosis, Micrognathia,... ORPHA:2780
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... OMIM:613327
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Talipes equinovarus, Scoliosis, Hyperlordosis OMIM:611067
Developmental And Epileptic Encephalopathy 73
Restlessness, Inguinal hernia, Cataract, Flexion contracture, Hip dysplasia, Scoliosis, Short nos... OMIM:618379
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... ORPHA:1798
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Micrognathia, High palate, Short philtrum, Compulsive behaviors, Clinodactyly of the 5th finger, ... OMIM:618443
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... ORPHA:93357
48,Xxyy Syndrome
Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal repet... ORPHA:10
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... OMIM:271510
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... OMIM:617052
Bethlem Myopathy 2
Elevated circulating creatine kinase concentration, Kyphosis, Distal joint laxity, Flexion contra... OMIM:616471
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Hypocholesterolemia, Clinodac... OMIM:223370
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Thin upper lip vermilion, Hepatic steatosis, Premature ovarian insufficiency, Hypergo... OMIM:212065
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen... ORPHA:2831
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Abn... ORPHA:568
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... OMIM:619542
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles t... ORPHA:62
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis, Elevated alkaline phosphatase of bone origin, Elevated circulati... OMIM:167320
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Hypochole... ORPHA:14
Masa Syndrome
Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb OMIM:303350
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Short neck, Micrognathia, Microvesicular hepatic s... OMIM:300855
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho... OMIM:615222
Kaufman Oculocerebrofacial Syndrome
Smooth philtrum, Thin upper lip vermilion, Congenital hip dislocation, Ovoid vertebral bodies, Mi... OMIM:244450
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchid... OMIM:617796
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Wide nasal bridge, High p... OMIM:618393
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Cataract, Hypoglycemia, Short neck, ... OMIM:618958
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar... ORPHA:2522
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Self-injurious beha... OMIM:619467
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... ORPHA:98855
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De... ORPHA:1830
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Joint laxity, Microretrognathia, Monkey wrench femoral neck, Micromelia, Hyper... OMIM:618870
Cohen Syndrome
Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased ... OMIM:216550
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Flexion contracture, Knee flexion contracture, Cryptorchidism, Insulin resistance, ... OMIM:214150
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Abnormal ... ORPHA:2635
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micrognathia, Narrow mouth, Wide nasal bridge, Developmental cataract, Hydrocele te... OMIM:618810
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hype... ORPHA:1803
Diastrophic Dysplasia
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... ORPHA:628
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... OMIM:609325
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Small scrotum, Short neck, Micrognathia, 2-3 toe cutaneous syndactyly... OMIM:609625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlor... OMIM:606612
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Hyperlordosis, Increa... OMIM:600462
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta... ORPHA:232
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... ORPHA:98863
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Rhizomelia, Mi... OMIM:602471
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... ORPHA:2614
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hyperactivity, Hypospadias, Cryptorch... OMIM:614613
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm... OMIM:618658
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Abnormality of the ovary, Joint hyperflexibility, Hypogonadism, Cubitus valgu... ORPHA:1875
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... ORPHA:93315
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micr... ORPHA:536532
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... OMIM:146000
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... OMIM:301900
Desbuquois Dysplasia 2
Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif... OMIM:615777
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Proximal placement of thumb, Micromelia, Micrognat... OMIM:270400
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... ORPHA:261
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Tapered finger, Micrognathia, Kyphosis, Wide nasal bridge, Hypoplasia o... ORPHA:2479
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentratio... ORPHA:98853
Schaaf-Yang Syndrome
Mandibular prognathia, Flexion contracture, Micropenis, Tapered finger, Cryptorchidism, Obesity, ... OMIM:615547
Nemaline Myopathy 7
Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, High palate OMIM:610687
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholecystitis, Abnormal repetitive mannerisms, Broad metacarpals, Hepatomegaly, Tapered finger, H... OMIM:301066
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... OMIM:616834
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Hyperlordosis, Pierre-Robin sequence, Small hand, Wide nasal bridge... OMIM:619980
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis,... OMIM:165800
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, I... OMIM:234100
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon... ORPHA:508533
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia OMIM:615704
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... ORPHA:94068
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Persistent pupi... OMIM:257850
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Osteopo... OMIM:234250
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosis, Spinal r... ORPHA:171436
Wieacker-Wolff Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... OMIM:314580
Myasthenic Syndrome, Congenital, 14
Hyperlordosis, Distal joint laxity, Knee flexion contracture, High palate, Scoliosis, Mildly elev... OMIM:616228
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... ORPHA:65759
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Elb... ORPHA:206546
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphos... ORPHA:75840
Intellectual Developmental Disorder, Autosomal Dominant 29
Dental crowding, Cutaneous finger syndactyly, High palate, Hyperactivity, Lumbar hyperlordosis, B... OMIM:616078
2Q24 Microdeletion Syndrome
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi... ORPHA:1617
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint laxity, Arachnodactyly, Hyperlordosis, Aggressive behavior, Micrognathia, Wide mouth, Self-... OMIM:300986
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... ORPHA:157973
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Abnorma... OMIM:618484
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... ORPHA:2850
Myopathy, Distal, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, High palate, Scoliosis,... OMIM:160500
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb... OMIM:607095
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormality o... ORPHA:3130
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr... OMIM:619719
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Malar ... OMIM:266510
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Enlarged joints, Large tarsal bones, Micrognathia, Fl... OMIM:215150
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Sel... ORPHA:2959
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Carious teeth, Hyperhidrosis, Red... ORPHA:2617
Chondroectodermal Dysplasia With Night Blindness
Difficulty walking, Gait disturbance, Epiphora ORPHA:319195
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Short n... ORPHA:93267
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurr... ORPHA:3409
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Hyperactivity, Small for gestational age, Micrognathia, Kyphosis, Deep philtrum,... OMIM:615834
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Hip dysplasia, High palat... OMIM:611890
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Myopathy, Myofibrillar, 7
Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Shoulder flexion contracture, ... OMIM:617114
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Prominent metopic ridge, Dental crowding, Hyperlordos... ORPHA:2789
Joubert Syndrome 37
Hepatomegaly, Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidis... OMIM:619185
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Tapered finger, Kyphosis, Cryptorchidism, Self-injurious behavior, Skin-pick... OMIM:618512
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Li... OMIM:615065
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... OMIM:619797
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Social and occupational deterioration, Falls, Gait imbalance, Mental deterioration, Dec... ORPHA:240071
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Joint stiffness, Spinal... OMIM:609308
48,Xxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th fi... ORPHA:96263
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Congenital hip dislocation, Limb joint contracture, High palate, Scoliosis,... OMIM:255310
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferr... OMIM:606069
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Elbow contracture, Hyperlordosis, Achilles te... OMIM:620249
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limited elbow extension ORPHA:156728
Smith-Magenis Syndrome
Mandibular prognathia, Hyperactivity, Hypertriglyceridemia, Everted upper lip vermilion, Malar fl... OMIM:182290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Cri-Du-Chat Syndrome
Short neck, Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short ph... OMIM:123450
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Three M Syndrome 3
Small for gestational age, Short neck, Hyperlordosis, Increased vertebral height, Slender long bo... OMIM:614205
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... OMIM:602557
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b... ORPHA:163649
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly... ORPHA:137834
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Clinodactyly of the 5th finger, Hepatic steatosis, Finger syndactyly, Hyp... ORPHA:254346
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ... OMIM:300602
Jansen-De Vries Syndrome
Thin upper lip vermilion, Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Wi... OMIM:617450
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... ORPHA:2557
Methylcobalamin Deficiency Type Cble
Syndactyly, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia... ORPHA:2169
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Tongue fasciculations, Attention deficit hyperactivity disorder, Narrow ... OMIM:620007
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypoglycemia, Micrognathia, Short toe, Osteoarthr... ORPHA:633
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... OMIM:186500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Small scrotum, Abnormal dental enamel morphology, Abnormal den... ORPHA:3253
Mulchandani-Bhoj-Conlin Syndrome
Hyperlordosis, 2-3 toe syndactyly, Retrognathia, Scoliosis, Clinodactyly, Failure to thrive OMIM:617352
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cataract, Small for gestatio... ORPHA:79237
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Elevated hepatic transaminase, Congenital hip dislocation, Elevated circulating cr... OMIM:300280
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Decreased fumarate hydratase activity, Conjunctival icterus,... OMIM:606812
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Increased intraabdominal fat, Glucose intolerance, High palate, In... ORPHA:2457
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Cataract, Hypoglycemia, Premature ... ORPHA:79239
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... ORPHA:2848
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Ovoid vertebral bodies, Abnormality of the verteb... ORPHA:1856
Distal Deletion 10Q
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinodactyly of the 5t... ORPHA:96148
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Marinesco-Sjogren Syndrome
Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrat... OMIM:248800
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Enlargement of the ankles, Leukocytosis, Hyperhomocystinemia, At... ORPHA:542643
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in ... OMIM:613385
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth,... ORPHA:261250
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Thick vermilion bor... ORPHA:505652
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:613818
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Decreased female libido, Smal... ORPHA:330015
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Three M Syndrome 2
Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlord... OMIM:612921
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Limited knee flexion, Hammertoe, Lumbar hyperlordosis, Elevated circulating creatine kinase conce... ORPHA:435387
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Abnorma... ORPHA:534
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... ORPHA:239
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Hyperhidrosis, High palate, Short philtrum, Short palm, Clinodac... ORPHA:85293
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... ORPHA:2839
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... ORPHA:93360
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br... ORPHA:710
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Mandibular prognathia, Short metatarsal, Clitoral hypoplasia, Short metacarpal, Rhizo... OMIM:614813
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Supernumerary nipple, Hip dislocation,... ORPHA:293843
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Abnormality of the nail, Abnormal testis morphology, Generali... ORPHA:317
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Mandibular prognathia, Hyperactivity, Sandal gap, Hypospadias, Aggressive behavior,... OMIM:300354
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... OMIM:611209
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Short neck, Cryptorchidism, Short toe, Flexion contracture, Micro... ORPHA:98791
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Dental crowding, Micromelia, Kyphosis, Cryptorchidism, Limited... OMIM:180870
Gapo Syndrome
Keratoconus, Mandibular prognathia, Delayed eruption of teeth, Dysmenorrhea, Micrognathia, Abnorm... ORPHA:2067
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Large hands, Oligodontia, Everted lower lip vermilion, Scolios... ORPHA:276630
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Hyperglycem... OMIM:608612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:613723
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Steatorrh... ORPHA:71
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... OMIM:176270
Hydroa Vacciniforme
Epiphora ORPHA:330058
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Cataract, Delayed closure of the anterior fontanelle, Abnormal limb b... ORPHA:251009
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... ORPHA:94065
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:615156
Myasthenic Syndrome, Congenital, 5
Dysphagia, Scoliosis, Hyperlordosis OMIM:603034
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Short Syndrome
Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Glucose intolerance, Hyperglycemia... OMIM:269880
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... ORPHA:93328
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Hepato... OMIM:253200
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
49,Xxxxy Syndrome
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th fi... ORPHA:96264
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema... OMIM:248370
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Wide nasal bridge, Coxa vara, Scoliosis... OMIM:615155
Myopathy, Centronuclear, 2
Hyperlordosis, Kyphosis, Flexion contracture, High palate, Talipes equinovarus, Scoliosis OMIM:255200
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... OMIM:620269
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia... ORPHA:904
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Harrod Syndrome
Cataract, Arachnodactyly, Hypospadias, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, ... ORPHA:2115
Vernal Keratoconjunctivitis
Lacrimation abnormality ORPHA:70476
Myopathy, Centronuclear, 1
Flexion contracture, Mildly elevated creatine kinase, Hyperlordosis OMIM:160150
Wilson Disease
Back pain, Acute hepatic failure, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepa... ORPHA:905
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyl... OMIM:164745
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Broad-based gait, Coxa vara, Developmen... OMIM:616716
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Abnormal repe... OMIM:309000
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Congenital hip dislocation, Cataract, Wide cranial sutures, Joint hypermobility,... OMIM:219150
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba... OMIM:183900
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen... ORPHA:353
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Hypomelanosis Of Ito
Syndactyly, Cataract, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydac... OMIM:300337
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Marinesco-Sjögren Syndrome
Short palm, Cataract, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital ... ORPHA:559
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... OMIM:203800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Cataract, Hyperlordosis, Abnormal circulating creati... ORPHA:369840
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th... ORPHA:231226
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypospadias, Arachnodactyly, Joint stiffness, Abnormality of the dentition, Kyphosis, Scoliosis, ... ORPHA:1548
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Cataract, Decreased response to growth hormone stimulation test, Narrow ... ORPHA:436174
Congenital Myasthenic Syndromes With Glycosylation Defect
Joint laxity, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Flexion c... ORPHA:353327
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:618129
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... ORPHA:93346
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... OMIM:260400
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Inguinal hernia, Dental crowding, Proximal placement of thumb, M... ORPHA:3121
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polyda... ORPHA:3098
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Obesity, Type II ... ORPHA:3191
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Nail-Patella Syndrome
Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodactyly ... OMIM:161200
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Down-sloping shoulders, Micrognathia, Hepatocel... OMIM:616200
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Dysphagia, Joint hypermobility OMIM:618323
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Lu... OMIM:608328
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Femur frac... OMIM:259700
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Joint laxity, Lumbar hyperlordosis, Toe syndactyly, Decreased response to growth hormo... OMIM:619234
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... ORPHA:3051
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Dental malocclus... OMIM:618727
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypocalcemic ... OMIM:277440
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Abnormally lar... OMIM:269300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Micrognathia, Narrow ... ORPHA:1323
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Wide nasal bridge, Abnormal morphology of ... ORPHA:1797
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Decreased beta-galactosidase activity, Scoliosis, Ant... OMIM:230650
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Micromelia, Hypop... ORPHA:93296
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... OMIM:254090
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Cataract, Genu recurvatum, Reduced bone mineral density, Abnorm... ORPHA:2611
Flynn-Aird Syndrome
Cataract, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Type II diabetes mellitu... ORPHA:2047
Alacrima, Congenital, Autosomal Recessive
Alacrima OMIM:601549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Talipes equinovarus, Flexion contracture, Elevated circulating creatine kinase concentration, Hyp... OMIM:611588
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... ORPHA:794
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Downturned corners of mouth, High palate, Widely spaced teeth,... ORPHA:369891
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Lymphopenia, L... OMIM:250250
Myasthenic Syndrome, Congenital, 16
High palate, Hyperlordosis OMIM:614198
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft upper lip, Short thumb, Retrognathia, Cleft palate, Persis... OMIM:612561
Fucosidosis
Cervical platyspondyly, Anhidrosis, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis, H... OMIM:230000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut... ORPHA:221016
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Micrognathia, Bila... OMIM:609465
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... ORPHA:193
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... OMIM:210600
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Metaphyse... OMIM:618961
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... OMIM:617102
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Short phi... ORPHA:2429
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Juvenile cataract, Sh... ORPHA:221008
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Cataract, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endp... ORPHA:250984
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Cryptorchidism, Congenital hepatic fibrosis, Ob... ORPHA:2377
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Cataract, Abnormal denta... ORPHA:1458
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail, Hypohidrosis ORPHA:79394
Oculofaciocardiodental Syndrome
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Short thumb... ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp... ORPHA:231214
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:26791
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,... OMIM:102370
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism,... ORPHA:377
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality... ORPHA:53
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Dental malocc... ORPHA:2471
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat... ORPHA:2215
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short toe, Short metatarsal, O... OMIM:103580
Arthrogryposis, Distal, Type 5
Keratoconus, Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Keratog... OMIM:108145
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... OMIM:619950
Lathosterolosis
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... OMIM:607330
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Small for gestational age, Hypoglycemia, Micrognathia, ... ORPHA:73272
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short metatarsal, Obesity, Ost... OMIM:612463
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Joint laxity, Ankle flexion contracture, Scoliosis, Hyperlordosis OMIM:617760
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Period... ORPHA:955
Myofibrillar Myopathy 10
Mandibular prognathia, Sandal gap, Elevated circulating creatine kinase concentration, Ankle flex... OMIM:619040
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Anemia ORPHA:2598
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Pelger-Huet Anomaly
Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi... OMIM:169400
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Lim... ORPHA:3068
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... ORPHA:398069
Bethlem Myopathy
Lumbar hyperlordosis, Multiple joint contractures, Camptodactyly of finger, Interphalangeal joint... ORPHA:610
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Tibial bowing, Femoral bowing, Hyperhidrosis, Knee fle... OMIM:601559
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valg... ORPHA:3082
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Hyperlordosis, Long fingers, High palate, Talipes equinovarus, Narrow mouth, Ret... ORPHA:169186
Focal Facial Dermal Dysplasia Type Iii
Lacrimation abnormality ORPHA:1807
Mucopolysaccharidosis, Type X
Hyperlordosis, Diastema, Open bite, Wide nasal bridge, Genu valgum, Hip dysplasia, Posterior scal... OMIM:619698
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, S... ORPHA:583
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Decreased response to growth hormone stimulation test, Calcaneovalgus deformit... ORPHA:363958
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Prominent fingertip pads,... OMIM:305450
Limbal Stem Cell Deficiency
Lacrimation abnormality, Epiphora ORPHA:171673
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Talipes equinovarus, Scoliosis OMIM:617087
Blepharonasofacial Malformation Syndrome
Lacrimation abnormality ORPHA:1252
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hepatomegaly, Hypopla... OMIM:607014
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Splenomegaly, Kyphosis, Flexion contracture, Oste... ORPHA:87876
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... OMIM:259600
Mucolipidosis Ii Alpha/Beta
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Megalocornea... OMIM:252500
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul... ORPHA:404454
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High palate, Scoliosis, Arthrogryposis... ORPHA:178148
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Short neck, Cryptorchidism, Narrow philtrum, Cu... ORPHA:163654
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Trip... ORPHA:124
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Nail dystrophy, Atrichia, Decreased t... ORPHA:1867
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Tics, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger, Arac... ORPHA:261330
Galactosemia I
Hemolytic anemia, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypo... OMIM:230400
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly ORPHA:796
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler... OMIM:607944
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Hypogonadism, Sparse hair ORPHA:2316
Werner Syndrome
Low back pain, Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Diabetes mellitus, Elevat... OMIM:277700
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Aplasia of the 1st metacarpal, Eruption... ORPHA:476126
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Cataract, Short neck, Short metatarsal, Obesity, Ost... OMIM:612462
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Scoliosis, Beaking of ver... OMIM:108300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Joint hypermobility, Dental crowding, Oral-pharyngeal dysphagia, Long nose, Joint st... OMIM:619184
Trisomy 13
Cataract, Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, C... ORPHA:3378
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Tripha... OMIM:105650
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Hypoplasia of the m... ORPHA:391474
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Large for gestational age, Hepatoblastoma... ORPHA:116
Lacrimal Duct Defect
Epiphora OMIM:149700
Baralle-Macken Syndrome
Cataract, Tapered finger, Kyphosis, High, narrow palate, Obesity OMIM:619255
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Pterygium, Anisosp... ORPHA:1865
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... ORPHA:192
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Cataract, Ectopia lentis, Joint stiffness, Hypoplasia of ... OMIM:277600
Koolen-De Vries Syndrome
Vertebral fusion, Cataract, Arachnodactyly, Abnormal dental enamel morphology, Hypospadias, Abnor... ORPHA:96169
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platys... ORPHA:90653
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ... OMIM:600373
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Elevated hepatic transaminase, Cataract, Foot joint contract... ORPHA:90321
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Hyperlordosis, Thin lower lip vermilion, Decreased proportion of CD4-positive helper ... ORPHA:221139
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... OMIM:619503
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Kyphosis, Crypt... ORPHA:90322
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Dysphagia, Short long bone, Scoliosis, Camptodactyly, Thrombocytopenia OMIM:619751
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis ORPHA:100976
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Emanuel Syndrome
Broad jaw, Sacral dimple, Congenital hip dislocation, Inguinal hernia, Dental crowding, Congenita... OMIM:609029
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Compulsive behaviors, Cl... OMIM:617061
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... ORPHA:261318
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi... OMIM:612813
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Genu valgum, Reduced bone mineral densi... ORPHA:2983
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr... OMIM:239000
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... ORPHA:2878
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... OMIM:620141
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Hypero... ORPHA:397973
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Clinodac... ORPHA:2710
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Cataract, Elevated circulating creatine kinase concentration, Abnormality i... ORPHA:370959
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Cryptorchidism, Kyphosis, High palate, Short philtrum, Attention def... OMIM:615433
Rhizomelic Chondrodysplasia Punctata
Cataract, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stip... ORPHA:177
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Small nail OMIM:242100
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia OMIM:618840
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... ORPHA:1858
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Thin upper lip vermilion, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypog... ORPHA:2232
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... ORPHA:79240
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Micrognathia, Metatar... OMIM:214110
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Kyphoscoliosis, Tapered finger, Short neck, Keratitis, Micrognathia, Narrow mouth, El... OMIM:272430
Tempi Syndrome
Hypoxemia, Increased hematocrit, Polycythemia ORPHA:284227
Olmsted Syndrome 1
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... OMIM:614594
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Cryptorchidism, Deep phi... ORPHA:404440
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ... OMIM:605130
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis,... OMIM:610756
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Dec... OMIM:259440
Short Stature-Micrognathia Syndrome
Joint laxity, Cataract, Rhizomelia, Small scrotum, Penoscrotal hypospadias, Coxa valga, Bowing of... OMIM:617164
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Warburg Micro Syndrome 3
Cataract, Small scrotum, Kyphoscoliosis, Micrognathia, Hypoplastic labia minora, Flexion contract... OMIM:614222
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met... OMIM:613320
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Kyphosis, High, narrow palate, Split hand, Obesity, Scoliosis OMIM:618124
Alexander Disease
Osteopenia, Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Hyperhidr... ORPHA:58
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long ... ORPHA:447980
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho... OMIM:118651
Scapuloperoneal Spinal Muscular Atrophy
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipes equinovarus, Sco... OMIM:181405
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity ORPHA:86812
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Hypogonadotropic hyp... OMIM:235200
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... ORPHA:2491
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased iduronate sulfat... OMIM:252600
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, Vertebral fusi... OMIM:610443
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Hyperactivity, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptor... ORPHA:412035
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Mucopolysaccharidosis, Type Vii
Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak... OMIM:253220
Down Syndrome
Short neck, Downturned corners of mouth, Microdontia, Clinodactyly of the 5th finger, Joint laxit... ORPHA:870
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Epiphora OMIM:616353
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... ORPHA:666
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Mandibular prognathia, Genu recurvatum, Malar flattening, Aggressive behavior, Kyph... ORPHA:364028
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Congenital hip dislocation, Dental crowding, Kyphoscoliosis, ... ORPHA:2020
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Crisponi Syndrome
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... ORPHA:1545
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... ORPHA:2269
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Increased connective tissue, Scoliosis, Hyperlordosis OMIM:616852
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Bardet-Biedl Syndrome 9
Syndactyly, Polydipsia, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Irregular me... OMIM:615986
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... OMIM:300946
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Fragile X Syndrome
Macroorchidism, postpubertal, Joint laxity, Hyperactivity, Mandibular prognathia, Self-biting, Sc... OMIM:300624
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Corneal erosion, Scoliosis ORPHA:816
Alacrima, Congenital, Autosomal Dominant
Alacrima, Decreased lacrimation OMIM:103420
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:253700
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... OMIM:228520
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop... OMIM:617591
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon contracture, F... OMIM:310200
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Elevated 8-dehydrocholes... OMIM:302960
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Retrognathia, Bupht... OMIM:618005
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, Iridescent po... OMIM:602668
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Small for gestational age, Rhiz... OMIM:607143
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Hypospadias, Long n... OMIM:617602
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Kyphosis, Ankle clonus, Infertility, Scoliosis OMIM:614409
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Dysphagia, Short foot, Ankle clonus, Agitation, Scoliosis, Bruxism, Abnorma... OMIM:617435
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Abnormal fin... ORPHA:2658
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cataract, Aggressive behavior, Micrognathia, Cryptorchidism, Jaund... OMIM:608093
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Short nec... ORPHA:363528
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... OMIM:277590
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contractur... OMIM:259050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... OMIM:619951
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hern... ORPHA:3218
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,... OMIM:300534
Mirage Syndrome
Hyponatremia, Hypoglycemia, Rocker bottom foot, Hypospadias, Hypergonadotropic hypogonadism, Shaw... OMIM:617053
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Lathosterolosis
Hypoplasia of penis, Micrognathia, Microcornea, Downturned corners of mouth, High palate, Abnorma... ORPHA:46059
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Werner Syndrome
Increased bone mineral density, Cataract, Lipoatrophy, Lipodystrophy, Rocker bottom foot, Joint s... ORPHA:902
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Cataract, Elevated circulating creatine kinase conce... OMIM:615356
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Kyphoscoliosis, Scarring... ORPHA:35173
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the ... ORPHA:828
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive OMIM:618234
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Cataract, Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, ... OMIM:224410
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Short thumb, Neutropenia, Osteoporosis, Cleft palate, Increased me... OMIM:612562
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ... ORPHA:1826
Srd5A3-Cdg
Elevated hepatic transaminase, Cataract, Decreased response to growth hormone stimulation test, M... ORPHA:324737
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Mega... OMIM:249420
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Short... ORPHA:238750
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Lens luxation, Ectopia lentis... OMIM:224400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone... OMIM:615630
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Abnorm... OMIM:612394
Cockayne Syndrome B
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of t... OMIM:133540
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
Mend Syndrome
Sacral dimple, Cataract, Overlapping toe, Broad hallux, Hyperactivity, Aggressive behavior, Micro... ORPHA:401973
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Male urethra... ORPHA:464738
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair ORPHA:659
2P15P16.1 Microdeletion Syndrome
High palate, Prominent metopic ridge, Tapered finger, Wide nasal bridge, Scoliosis, Narrow mouth,... ORPHA:261349
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hypoglycemic se... OMIM:616364
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Sc... ORPHA:818
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Ulnar dev... OMIM:618291
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Kyphosis, Crypto... OMIM:619005
Distal Triplication 15Q
Arachnodactyly, Corneal dystrophy, Craniosynostosis, Large for gestational age, Abnormal external... ORPHA:314588
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Hyperhidrosis, Periodontitis, Hepatomegaly... ORPHA:1775
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Abnormal 5th finger ... ORPHA:1439
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow ORPHA:3242
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... ORPHA:2916
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, Ac... OMIM:620351
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose,... OMIM:612563
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ... OMIM:268400
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... ORPHA:1507
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Sunct Syndrome
Increased tear production, Epiphora ORPHA:57145
Triploidy
Omphalocele, Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Hepatomegaly, Short n... ORPHA:3376
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck,... OMIM:301041
Marden-Walker Syndrome
Inguinal hernia, Arachnodactyly, Hypospadias, Short neck, Micrognathia, Kyphosis, Cryptorchidism,... OMIM:248700
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Fucosidosis
Hepatomegaly, Lipoatrophy, Corneal opacity, Abnormality of the dentition, Kyphosis, Abnormality o... ORPHA:349
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Oculodentodigital Dysplasia
Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger, Microdon... OMIM:164200
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Smal... ORPHA:500055
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Hypoplastic labia majora, Camptodactyly of... OMIM:609128
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cataract, Cryptorchidism, Wide nasal bridg... ORPHA:250989
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Thin upper lip vermilion, Inguinal hernia, Cataract, Rhizomelia, Hepatomegaly, Supernumerary nipp... OMIM:614376
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth h... ORPHA:91348
Brittle Cornea Syndrome 1
Keratoconus, Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Keratoglobus, A... OMIM:229200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Flexion contracture, Lumbar ... ORPHA:505248
Bleeding Disorder, Platelet-Type, 21
Alopecia, Menorrhagia OMIM:617443
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, Abnormality ... ORPHA:391307
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Impulsivity, Hyperlordosis, Aggressive behavior, Micrognathia, Hypoplas... ORPHA:73223
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Inguinal hernia, Cataract, Diabetes mellitus, Long nose... OMIM:616541
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Cockayne Syndrome A
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... OMIM:216400
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Wide mouth, Long philtru... OMIM:608776
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... ORPHA:198
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Sclerocornea, Micrognathia, Abnormal fo... ORPHA:280
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, High palate, El... OMIM:614866
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Herpes Simplex Virus Stromal Keratitis
Epiphora ORPHA:137599
Sialidosis Type 1
Cataract, Corneal opacity, Splenomegaly, Kyphosis, Thick lower lip vermilion, Wide nasal bridge, ... ORPHA:812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Knee flexion contracture, High palate, Macrov... OMIM:608836
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Thin upper lip vermilion OMIM:609384
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypogonadism ORPHA:3143
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro... ORPHA:98870
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Inguinal hernia, Small for gestational age, Hypoglycemia, Dysmenorrhea... ORPHA:397590
Facioscapulohumeral Dystrophy
Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Hypogonadotropic hypogonadism OMIM:612079
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac win... OMIM:235510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Alacrima OMIM:300858
Monosomy 9Q22.3
Delayed eruption of teeth, Hyperactivity, Cataract, Ovarian fibroma, Odontogenic keratocysts of t... ORPHA:77301
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Failure to thrive in infa... OMIM:610377
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... OMIM:602535
Myhre Syndrome
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... ORPHA:2588
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Gelatinous Drop-Like Corneal Dystrophy
Epiphora ORPHA:98957
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Carey-Fineman-Ziter Syndrome 1
Cataract, Elevated circulating creatine kinase concentration, Spinal rigidity, Tapered finger, Cr... OMIM:254940
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Bifid uvula, Joint laxity, Cryptorchidism, Punctate cataract, Wide nasal... OMIM:607812
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis OMIM:620285
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... OMIM:300200
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis ORPHA:85317
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Increased connective tissue, Hyperlordosis, Protrudin... ORPHA:258
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... ORPHA:235
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scol... ORPHA:2181
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Stomatitis, Osteoporosis, Rickets, Weight loss,... OMIM:212750
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, High p... ORPHA:958
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... ORPHA:2760
Cerebellofaciodental Syndrome
Cataract, Tapered finger, Short neck, Aggressive behavior, Cryptorchidism, Dental malocclusion, S... OMIM:616202
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Micrognath... OMIM:263210
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... OMIM:151210
3C Syndrome
Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Hypospadias, Short neck, Micrognathia, K... ORPHA:7
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan... ORPHA:2309
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Cryptor... OMIM:619194
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocy... ORPHA:31150
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... ORPHA:2962
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... OMIM:102500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Genitopalatocardiac Syndrome
Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly,... ORPHA:2075
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Cone-Rod Dystrophy 10
Epiphora OMIM:610283
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Elevated h... OMIM:269700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Increased circulating lactat... ORPHA:365
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Micro Syndrome
Hypoplasia of penis, Cataract, Joint stiffness, Micrognathia, Kyphosis, Cryptorchidism, Hypoplast... ORPHA:2510
Robinow Syndrome, Autosomal Dominant 3
Short neck, Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Micropenis, Short pha... OMIM:616894
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... OMIM:618150
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Redu... ORPHA:2911
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cataract, Cachexia,... ORPHA:217346
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Wormian bones, Femora... OMIM:610915
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Waardenburg Syndrome Type 1
Lacrimation abnormality ORPHA:894
Pycnodysostosis
Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Per... OMIM:265800
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Microgn... OMIM:607015
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... ORPHA:84
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... OMIM:309350
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Kyphosis,... ORPHA:3219
Hyperostosis Cranialis Interna
Epiphora OMIM:144755
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, High palate, Ulnar deviation of the hand or of fingers of the ... OMIM:214100
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptod... ORPHA:2311
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Small for gestational... OMIM:616229
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Tented upper lip vermilion, Abnormal hemoglobin, Joint ... ORPHA:847
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ... OMIM:619148
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Hypoglycemic seizures, Gingivitis, Periodontitis, Hepatic steatosis, Hepa... ORPHA:79259
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia OMIM:215100
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Diabetes ... ORPHA:125
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... OMIM:613839
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Glucose ... ORPHA:881
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Stiff-Person Syndrome
Diabetes mellitus, Lumbar hyperlordosis, Anemia, Hyperhidrosis OMIM:184850
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... OMIM:194190
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... ORPHA:3455
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Widely spaced teeth, High pa... OMIM:266920
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Myotonia Permanens
Limitation of joint mobility, Dysphagia, Hyperlordosis ORPHA:99735
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami OMIM:141300
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Bro... ORPHA:171866
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Hyperacti... ORPHA:261323
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Cataract, Femoral retroversion, Micromelia, Kyphosis, Orofacial cleft, Macr... ORPHA:79107
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Abnormality of the dentition, Hyperlipidemia, Flexion contracture, Insulin resistance, ... ORPHA:90153
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Joint hyperflexibility ORPHA:319199
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Paroxysmal Hemicrania
Epiphora ORPHA:157835
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Joint laxity, Cervical neoplasm, Hypercalcemia, Kyphoscolios... ORPHA:653
Hereditary Methemoglobinemia
Small for gestational age, Lip discoloration, Cyanosis, Methemoglobinemia ORPHA:621
Cockayne Syndrome
Congenital contracture, Lentiglobus, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Ag... ORPHA:191
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis,... OMIM:610475
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Micrognathia, Retrognathia, P... OMIM:617101
Atypical Rett Syndrome
Restrictive behavior, Kyphosis, Tongue thrusting, Small hand, Short foot, Agitation, Inappropriat... ORPHA:3095
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... OMIM:215140
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, T... ORPHA:140
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy... OMIM:264090
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Cataract, Hypospadias, Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly,... OMIM:616449
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Anorexia, Hypersplenism, ... ORPHA:77259
Seckel Syndrome 10
Microretrognathia, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glu... OMIM:617253
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-acet... OMIM:224120
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Cataract, Arachnodactyly, Recurrent fractures, Anore... ORPHA:394
Dystonia 1, Torsion, Autosomal Dominant
Multiple joint contractures, Hyperlordosis, Kyphosis, Scoliosis, Dysphagia OMIM:128100
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... ORPHA:1423
Acrocraniofacial Dysostosis
Lacrimation abnormality ORPHA:949
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Metaphyseal widening, Craniofacia... OMIM:618476
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Alacrima OMIM:608088
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... ORPHA:236
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora OMIM:167730
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnormality of t... ORPHA:1005
Tetrasomy 9P
Joint dislocation, Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners... ORPHA:3310
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Alopecia, Hypogonadism, Fine hair ORPHA:228390
Marfan Syndrome
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Hypoplasi... ORPHA:558
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... ORPHA:2655
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Dental crowding, Tapered finger, Aggressive behavior, Abnormality of the d... ORPHA:65286
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... ORPHA:64
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ... OMIM:616507
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Small for gestational age, Cataract, Kyphoscoliosis, Femoral retroversion, ... OMIM:607371
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypogonadism, Infertility, Oligomenorrhea, Delayed menarche ORPHA:412057
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Cataract, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Bone cyst, Os... ORPHA:3042
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip... OMIM:616914
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, High, narrow palate, Thick l... OMIM:162300
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hypercalcemia, Microgn... OMIM:156400
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Irregular menstruation, Tibial bowing, Femoral bowing... OMIM:616482
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Obesity, Downturned corners of mouth, Scoliosis ORPHA:464282
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Cataract, Foot joint contracture, Short neck, Tapered finger, Cryptorchidism, Mi... ORPHA:444072
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Epithelial Recurrent Erosion Dystrophy
Epiphora ORPHA:293381
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae,... ORPHA:96121
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Micrognathia, Cryptorchidism, Cleft lip, Furrowed ... OMIM:616975
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... ORPHA:522077
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Kyphosis, Obesity, Hyperuricemia, Attention deficit hyperactivity disorder, Narro... ORPHA:261222
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... ORPHA:284160
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Elevated h... OMIM:608594
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Atelis Syndrome 2
Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Hyperinsulinemia, Dev... OMIM:620185
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... ORPHA:2298
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large ... ORPHA:457359
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Cowden Syndrome 1
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hydrocele testis, O... OMIM:158350
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly... OMIM:616294
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Short neck, Sclerocornea, Abnormality of ... ORPHA:251038
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Hemivertebrae, ... OMIM:134780
Kapur-Toriello Syndrome
Cataract, Camptodactyly of finger, Short neck, Cleft upper lip, Short thumb, Cryptorchidism, Clef... OMIM:244300
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic pubic bone, Short l... OMIM:614524
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... ORPHA:3454
Kleefstra Syndrome 2
Kyphosis, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uvula OMIM:617768
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Cataract, Broad hallux phalanx, Toe syndactyly, Short ... ORPHA:959
Jaberi-Elahi Syndrome
Cataract, Joint stiffness, Kyphosis, Triangular mouth, Talipes equinovarus, Scoliosis, Hand clenc... OMIM:617988
Bardet-Biedl Syndrome 1
Dental crowding, High, narrow palate, High palate, Hepatic fibrosis, Micropenis, Syndactyly, Insu... OMIM:209900
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Branchiootorenal Syndrome 1
Gustatory lacrimation, Lacrimation abnormality OMIM:113650
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ... OMIM:609008
Cone-Rod Dystrophy 8
Epiphora OMIM:605549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture, Elevated circulating creatine kinase concentration OMIM:618138
Cowden Syndrome 5
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hydrocele testis, O... OMIM:615108
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Decreased liver function, Scoliosis ORPHA:79327
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... OMIM:258315
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... ORPHA:3353
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E... ORPHA:352447
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Bresek Syndrome
Cryptorchidism, Alopecia, Decreased testicular size ORPHA:85284
Glass Syndrome
Dental crowding, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodontia, Hig... OMIM:612313
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Cataract, Small scrotum, Rocker bottom foot, Megalocornea, Tapered fing... OMIM:601353
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... ORPHA:268261
Trichotillomania
Alopecia OMIM:613229
Mend Syndrome
Microretrognathia, Sacral dimple, Cataract, Overlapping toe, Broad hallux, Hyperactivity, Microgn... OMIM:300960
Cowden Syndrome 6
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hydrocele testis, O... OMIM:615109
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Hyperhidrosis, Spina bifida occulta, Finger syndactyly... ORPHA:464
Becker Nevus Syndrome
Lipoatrophy, Micromelia, Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Hypoplastic l... ORPHA:64755
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr... ORPHA:1855
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Limited elbow movement, Spinal rigidity, Hype... ORPHA:268
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Mandibular prognathia, Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum... OMIM:618493
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Neurotrophic Keratopathy
Lacrimation abnormality ORPHA:137596
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, High, narrow palate, Abnormal curvature of the vertebral column, Tics, ... OMIM:619475
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Thrombocytopenia, Reticuloc... ORPHA:508542
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Kyphosis, Deep philtrum, Wide nasal bridge, Orofacial cleft, Incomplete cleft of th... ORPHA:77300
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral bodies, Oppo... OMIM:252940
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Delayed eruption of teeth, Sacral dimple, Inguinal hernia, Failure to thrive, Catara... OMIM:247200
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... OMIM:180700
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Hypoglycemia, Kyphosis, Osteoporosis, Scoliosis, Cerv... OMIM:617190
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Von Hippel-Lindau Disease
Back pain, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Hyperhidros... ORPHA:892
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis,... OMIM:610489
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... ORPHA:392
Lateral Meningocele Syndrome
Smooth philtrum, Vertebral fusion, Inguinal hernia, Dental crowding, Short neck, Micrognathia, Ky... OMIM:130720
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Thin upper lip vermilion, A... OMIM:309520
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi... ORPHA:50945
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Sinusitis, Severe periodontitis, Abnormality of the dentit... ORPHA:2968
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Osteoporosis, Truncal obesity, Increased circulating c... OMIM:219080
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Abnormal repetitive mannerisms, Scoliosis, Attention deficit hyper... OMIM:617600
Distal Deletion 12Q
Short neck, Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle ... ORPHA:96149
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Glucose intoleran... OMIM:219090
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High pala... OMIM:613658
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl... ORPHA:861
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna... ORPHA:521426
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su... ORPHA:93325
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cranioectodermal Dysplasia 1
High, narrow palate, High palate, Hypocalcemia, Widely spaced teeth, Hepatic fibrosis, Microdonti... OMIM:218330
Noonan Syndrome 14
Short neck, Kyphosis, Cryptorchidism, High, narrow palate, Hyperhidrosis, Wide mouth, Thick vermi... OMIM:619745
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Cataract, Arachnodactyly, Corneal opacity, Abnormal thumb morphology, Cryptorchi... ORPHA:2719
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Kyphoscoliosis, Hyperlordosis, Micrognathia, Abnormal tibia morphology, Bone cyst, Gen... ORPHA:363700
Neu-Laxova Syndrome
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Pterygium... ORPHA:2671
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... OMIM:611590
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Cachexia, Anorexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagne... OMIM:175500
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario... OMIM:131300
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build OMIM:300676
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Hydrocele testis OMIM:137940
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Promi... ORPHA:1272
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Complete Androgen Insensitivity Syndrome
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... ORPHA:99429
Johanson-Blizzard Syndrome
Lacrimation abnormality ORPHA:2315
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Cortical subperi... ORPHA:94089
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Mandibular prognathia, Arachnodactyly, Large for gestational age, Hyperlordosis, Ky... OMIM:617011
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Short philtrum, ... OMIM:619127
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Persistence of hemoglob... OMIM:619769
Alpha-Mannosidosis, Infantile Form
Osteopenia, Mandibular prognathia, Short neck, Cortical thickening of long bone diaphyses, Widely... ORPHA:309282
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Microretrogna... OMIM:619418
Adrenoleukodystrophy
Alopecia, Hypogonadism, Impotence OMIM:300100
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... OMIM:308300
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Megal... OMIM:211380
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Clinodactyly of the 5th finger, Micro... ORPHA:464306
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Accessory spleen, Portal h... OMIM:620005
Distal Duplication 17Q
Hallux valgus, Accessory spleen, Hyperactivity, Joint laxity, Overlapping toe, Arachnodactyly, Rh... ORPHA:3379
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Corneal opacity, Ankle flexion contracture, Tapered... ORPHA:464311
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Carious teeth, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mea... OMIM:127550
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Stiff Person Spectrum Disorder
Diabetes mellitus, Lumbar hyperlordosis, Hyperhidrosis ORPHA:3198
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Patchy alopecia, Decreased testicular size ORPHA:85279
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormal repet... ORPHA:353281
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Micrognathia, Kyphosis, Umbilical hernia OMIM:618272
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers... OMIM:617527
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Decreased lacrimation OMIM:616488
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Ovarian fi... OMIM:109400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Alagille Syndrome 1
Long nose, Hemivertebrae, Microcornea, Abnormal anterior chamber morphology, Hypoplasia of the ul... OMIM:118450
Mucopolysaccharidosis Type 3
Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Hepatom... ORPHA:581
Carcinoid Syndrome
Epiphora ORPHA:100093
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Premature ovarian insufficiency, Female hypogonadism, Nail dystrophy, Male hypogonadism... OMIM:240300
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... ORPHA:90363
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Iris coloboma, Long hallux, Broad... ORPHA:2308
Catel-Manzke Syndrome
Joint dislocation, Short neck, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th f... OMIM:616145
Floating-Harbor Syndrome
Enlarged joints, Short neck, Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligod... ORPHA:2044
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277410
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... OMIM:613406
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Hypospadias, Short lingual frenulum, ... OMIM:614091
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Diastema, Kyphosis, ... OMIM:619718
Monosomy 18P
Alopecia, Low posterior hairline ORPHA:1598
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum... OMIM:607323
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Craniosynostosis, Kyphosis, Narrow mouth, Contracture of the proximal i... OMIM:618050
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Hyperhidrosis, Painless fractures due to injury, Premature loss of teeth, Self-mutilat... ORPHA:642
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Branchiooculofacial Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Clinodactyly of the 5th finger, Iris colob... OMIM:113620
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypoplastic toenails, Absent eyela... ORPHA:544488
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th... ORPHA:1606
Posterior Polymorphous Corneal Dystrophy
Lacrimation abnormality ORPHA:98973
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hyp... ORPHA:75508
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, Sh... OMIM:309900
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... ORPHA:93274
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Waardenburg Syndrome
Lacrimation abnormality ORPHA:3440
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Shor... ORPHA:567
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Hypogonadotropic hypogonadism, Decreased testicular size ORPHA:453533
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border OMIM:616455
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Spondyloocular Syndrome
Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Unilateral crypt... OMIM:605822
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Neurofibromatosis Type 1
Cataract, Corneal opacity, Recurrent fractures, Joint stiffness, Precocious puberty, Kyphosis, Cr... ORPHA:636
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for g... OMIM:557000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Hypoglycemia, Hypospadias, Abno... ORPHA:17
Proteus Syndrome
Central heterochromia, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda... ORPHA:744
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,... OMIM:303600
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Dental crowding, Reduced ... ORPHA:79329
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, C... OMIM:278250
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail ORPHA:166035
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Macroglossi... ORPHA:261144
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia ORPHA:500180
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... ORPHA:85138
Cohen-Gibson Syndrome
Osteopenia, Joint laxity, Cataract, Coxa valga, Hypoplastic iliac wing, Long fingers, Cryptorchid... OMIM:617561
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Hypohidr... OMIM:613451
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Elevated circula... ORPHA:1652
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Micropenis, Abnormal... OMIM:309590
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic ... ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353277
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Mi... ORPHA:199
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... ORPHA:2363
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Epiphora OMIM:613990
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Wide nasal bridge, Short lo... OMIM:619479
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Sézary Syndrome
Alopecia, Nail dystrophy ORPHA:3162
Nasolacrimal Duct Cyst
Epiphora ORPHA:141083
Xylt1-Cdg
Joint dislocation, Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Trunc... ORPHA:370930
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de... ORPHA:263508
Graft Versus Host Disease
Irritability, Decreased lacrimation ORPHA:39812
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, High palate, Short philtrum, Long toe, Arachnodactyly, Hy... ORPHA:3063
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla... OMIM:304150
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn... ORPHA:3472
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Sparse hair OMIM:613075
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Narrow palate, Femoral bow... OMIM:617022
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spurs, Hyperparathyro... OMIM:618188
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated ly... OMIM:230500
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchid... OMIM:619471
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal wi... OMIM:259770
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Kyphosis, Scoliosis OMIM:300861
Marden-Walker Syndrome
Abnormal penis morphology, Arachnodactyly, Camptodactyly of finger, Hypospadias, Joint stiffness,... ORPHA:2461
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Flared iliac... ORPHA:79255
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... OMIM:135500
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia,... OMIM:216340
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis, Autoamputation of digits, Hyperactivity, Neuropathic arthropathy, Osteomyelitis, Kera... OMIM:256800
Somatomammotropinoma
Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Hyperhidrosis, Widely spaced teeth, Pituitar... ORPHA:314769
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Acromegaly
Mandibular prognathia, Dysmenorrhea, Osteoarthritis, Wide penis, Hyperhidrosis, Widely spaced tee... ORPHA:963
Keutel Syndrome
Alopecia ORPHA:85202
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, High palate ORPHA:171881
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Clubbing, Lip telangiectasia, Tongue telangiectasia, Oral ... OMIM:600376
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Prominent finger... OMIM:309800
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Proximal placement of thu... OMIM:261540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Microcornea, Buphthalmos, Shallow anterior... OMIM:221900
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology ORPHA:1647
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Cleft lip, Cleft palate, Camptodactyly, Clinoda... OMIM:619123
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Thoracic scoliosis, Cataract, Small for gestational age, Lack of facial subc... OMIM:176690
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Elevated circulating creatine kinase concentration, 4-5 toe syndactyly... OMIM:611091
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn... OMIM:218600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Alg9-Cdg
Short neck, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, ... ORPHA:79328
Aspartylglucosaminuria
Mandibular prognathia, Anterior beaking of lumbar vertebrae, Abnormal vertebral morphology, Hepat... ORPHA:93
Legius Syndrome
Hyperactivity, Cataract, Acute monocytic leukemia, Ovarian neoplasm, Diaphyseal dysplasia, Xanthe... ORPHA:137605
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Kyphoscoliosis, Bilateral cryptor... OMIM:617403
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... ORPHA:500150
Sotos Syndrome
No permanent dentition, Flexion contracture, Abnormal vertebral morphology, Joint laxity, Hypospa... ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Microretrognathia, Sacral dimple, Thin upper lip vermilion, Short neck, Oral-pharynge... OMIM:300966
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Rett Syndrome
Cachexia, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis, Bruxism, Stereotypical h... OMIM:312750
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Enlarged polycystic ovaries, Kyphosis... ORPHA:201
Oculoauricular Syndrome
Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcorne... OMIM:612109
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... OMIM:135900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... ORPHA:423479
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Abnormal repetitive mannerisms, Oppositional defiant disorder, ... ORPHA:580
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... ORPHA:79277
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Microcornea, Oligodontia, Fused teeth, Contracture of the proximal ... OMIM:300166
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail ORPHA:974
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Clubbing, Lip telangiectasia, Tongue telangiectasia, Hypox... OMIM:187300
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Prominent metopic ridge, Craniosynostosis, Limited wrist moveme... ORPHA:576
Carney Complex
Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, Ovarian serous cystadenom... ORPHA:1359
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Oligozoospermia, Hypokalemia, Increased ci... ORPHA:786
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Alacrima OMIM:231550
X-Linked Agammaglobulinemia
Alopecia ORPHA:47
Ane Syndrome
Alopecia, Hypogonadotropic hypogonadism ORPHA:157954
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, Aggressive behavior, Impulsivity, K... OMIM:300967
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturne... ORPHA:79500
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Short palm, Hepatomegaly, Hamartoma of tongue, ... OMIM:269860
Nasopalpebral Lipoma-Coloboma Syndrome
Epiphora ORPHA:2399
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... ORPHA:37
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Abnormal dental enamel morphology, Tarsal synostosis, Aplastic clavicle, Micrognathi... ORPHA:85199
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Iniencephaly
Omphalocele, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Abse... ORPHA:63259
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Macrocytic anemia, Hyperactivity, Tented upper lip vermilion, Congenital diaphra... OMIM:614294
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertrichosis, Azoospermia, Hypogonadism, Decreased testi... ORPHA:168569
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Kyphosis, Splenomegaly... OMIM:615512
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Aggressive behavior, Cryptorchidism, Kyphos... OMIM:619244
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Dental malocc... OMIM:601552
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Spin... ORPHA:1724
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Intellectual Disability-Alacrima-Achalasia Syndrome
Alacrima ORPHA:289483
Mogs-Cdg
Alopecia, Hydrocele testis, Long eyelashes, Fair hair, Hirsutism ORPHA:79330
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary cent... OMIM:309580
Dyskeratosis Congenita, Digenic
Decreased testicular size, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Hyperhidrosis, Ankle clonus, Scoliosis OMIM:609541
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Hypohidrosis, Bilateral breast hypop... ORPHA:69085
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Sparse eyelashes OMIM:610768
15Q14 Microdeletion Syndrome
Inguinal hernia, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis,... ORPHA:261190
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbumine... ORPHA:99826
Marfan Syndrome
Genu recurvatum, Dental crowding, Equinus calcaneus, Incisional hernia, Micrognathia, Flexion con... OMIM:154700
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of ... ORPHA:2273
Aspartylglucosaminuria
Joint laxity, Hepatomegaly, Cataract, Kyphosis, Vacuolated lymphocytes, Neutropenia, Thick lower ... OMIM:208400
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Alacrima, Decreased lacrimation OMIM:609136
Dyskeratosis Congenita, Autosomal Recessive 1
Epiphora OMIM:224230
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Familial Dysautonomia
Gait disturbance, Ataxia, Alacrima ORPHA:1764
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia OMIM:226600
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Cataract, Joint hypermobility, ... OMIM:300990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... OMIM:200610
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Orofaciodigital Syndrome Iii
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydac... OMIM:258850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Conjun... OMIM:194380
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... OMIM:617140
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Lacrimoauriculodentodigital Syndrome 2
Alacrima OMIM:620192
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl... ORPHA:573278
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Irregular menstruation, Hirsutism, Abnormal libido ORPHA:189427
Geleophysic Dysplasia 1
Short palm, Osteopenia, Smooth philtrum, Hepatomegaly, Camptodactyly of finger, Coxa valga, Joint... OMIM:231050
Cdags Syndrome
Hypospadias, Sagittal craniosynostosis, Kyphosis, Cleft palate, Rectovaginal fistula, Short clavi... OMIM:603116
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Rectovaginal fis... OMIM:619708
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joint subluxati... OMIM:182250
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Multiple joint contractures, Hyperplastic labia majora, Hypoal... ORPHA:79318
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Microcornea, Bupht... ORPHA:91495
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Corneal Dystrophy, Posterior Polymorphous, 1
Epiphora OMIM:122000
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h... ORPHA:2108
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Alacrima OMIM:223900
Giant Cell Arteritis
Alopecia, Hyperhidrosis ORPHA:397
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Prostate ne... ORPHA:99867
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Irregular menstruation, Testicular adrenal rest tumor, Hirsutism ORPHA:90795
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre... OMIM:230740
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... OMIM:619557
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... ORPHA:3404
Classical Ehlers-Danlos Syndrome
Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Osteoarthritis, Genera... ORPHA:287
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Wide nasal bridge, Thin vermilion border, Scoliosis,... OMIM:182210
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis ORPHA:702
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Hypospadias, Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviati... OMIM:609944
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal sti... OMIM:118650
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Keratoconjunctivitis, Chronic hepatitis, Iron de... OMIM:269200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Eec Syndrome
Lacrimation abnormality ORPHA:1896
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Methemoglobinemia ORPHA:464453
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ectopia lentis... ORPHA:649
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Cataract, Carious teeth, Splenomegaly, Kyphosis, Fle... ORPHA:90324
Lacrimoauriculodentodigital Syndrome 3
Alacrima OMIM:620193
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr... ORPHA:411634
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hyperhidrosis, Wi... OMIM:300942
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ataxia, Alacrima OMIM:615510
Cerebrocostomandibular Syndrome
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic... OMIM:117650
Meckel Syndrome
Sclerocornea, Micrognathia, Asplenia, Microcornea, Accessory spleen, Cryptorchidism, Congenital h... ORPHA:564
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Carious teeth, Cryptorchid... OMIM:305000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Keloids, Oligozoospermia, Cryptorchidism OMIM:314300
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Phthisis bulbi, Broad ischia, Wide nasal bridge... OMIM:619727
Leigh Syndrome
Alopecia, Frontal hirsutism, Hypertrichosis ORPHA:506
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia OMIM:613001
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... OMIM:149730
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ataxia, Decreased lacrimation ORPHA:163746
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Postaxial polydactyly, Short neck, Septate vagina, Micrognathia,... OMIM:617925
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor... OMIM:314390
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgu... ORPHA:261537
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy OMIM:614008
Charge Syndrome
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... OMIM:214800
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Dysphagia OMIM:617143
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Premature ovarian insufficiency, Abnormal hair morphology, Abno... ORPHA:79474
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Alacrima OMIM:615560
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Abnormal pupi... ORPHA:261552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Kilquist Syndrome
Alacrima OMIM:619080
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Cachexia, Anorexia, Kyphosis, Scoliosis, Short hard palate, Genu varum ORPHA:1969
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Kyphosis, Ankle clonus, Tongue fasciculations, Scoliosis, Dysphagia OMIM:211530
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Bilateral crypto... OMIM:263650
Amoebiasis Due To Free-Living Amoebae
Irritability, Increased tear production, Confusion, Ataxia ORPHA:68
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgu... ORPHA:2152
Eisenmenger Syndrome
Hepatomegaly, Cyanosis, Elevated circulating C-reactive protein concentration, Clubbing, Hypochro... ORPHA:97214
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Alopecia universalis OMIM:606367
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Charge Syndrome
Lacrimation abnormality, Attention deficit hyperactivity disorder ORPHA:138
Ramon Syndrome
Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,... OMIM:266270
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis ORPHA:293978
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Hypohidrosis, Sparse body hair ORPHA:548
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Hypohidrosis ORPHA:90291
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Kyphosis, Dysphagia OMIM:619909
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Microvesicular ... OMIM:618278
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Lymphedema-Distichiasis Syndrome
Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Conjunctivitis, Recurrent corneal erosions... OMIM:153400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... OMIM:263520
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Hypoplasia of penis, Cataract, Micromelia, Urethrovaginal fistula, Micrognathia, Pre... ORPHA:93271
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Pallister-Killian Syndrome
Congenital hip dislocation, Small scrotum, Tented upper lip vermilion, Congenital diaphragmatic h... OMIM:601803
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Omenn Syndrome
Alopecia OMIM:603554
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Biotinidase Deficiency
Alopecia OMIM:253260
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis OMIM:263700
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Postencephalitic Parkinsonism
Kyphosis, Open mouth, Camptocormia, Dysphagia ORPHA:97349
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Kyphosis, Tongue thrusting, Talipes equinovarus, Scoliosis, Bruxism, Ab... OMIM:613454
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Premature ovarian insufficiency, Abnormal spermatogenesis, Hypogonadism, ... ORPHA:3464
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Helix Syndrome
Alacrima OMIM:617671
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Immunodeficiency 7
Patchy alopecia OMIM:615387
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Isolated Congenital Alacrima
Alacrima ORPHA:91416
Trisomy 8P
Decreased lacrimation ORPHA:264450
Focal Dermal Hypoplasia
Alopecia, Abnormality of the nail ORPHA:2092
Phakomatosis Pigmentokeratotica
Cryptorchidism, Patchy alopecia, Hyperhidrosis ORPHA:2874
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Stüve-Wiedemann Syndrome
Lacrimation abnormality ORPHA:3206
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Nail dystrophy, Alopecia universalis, Hypohidrosis ORPHA:158668
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Emotional lability, Decreased lacrimation, Depression ORPHA:293987
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Cryptorc... OMIM:308205
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79396
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Nail dystrophy ORPHA:37042
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Scoliosis ORPHA:88644
Congenital Disorder Of Deglycosylation 1
Athetosis, Alacrima, Dysmetria OMIM:615273
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Brittle hair ORPHA:2750
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos... OMIM:617088
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai... ORPHA:3107
Xeroderma Pigmentosum
Cryptorchidism, Alopecia, Hypogonadism, Decreased testicular size ORPHA:910
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... ORPHA:251510
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Alacrima OMIM:614653
Biotinidase Deficiency
Alopecia ORPHA:79241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Alacrima OMIM:618548
Viss Syndrome
Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broad uvula, Bifid uvul... OMIM:619472
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Precocious puberty, Kyphosis, Osteoporosis, Osteolysis, Diaphysea... ORPHA:97685
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Colchicine Poisoning
Alopecia ORPHA:31824
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hypergonadotropic hypogonadism ORPHA:227990
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail OMIM:308050
Autoimmune Polyendocrinopathy Type 3
Alopecia, Hypergonadotropic hypogonadism ORPHA:227982
Steinert Myotonic Dystrophy
Alopecia, Hypergonadotropic hypogonadism, Early balding, Decreased fertility, Impotence, Male hyp... ORPHA:273
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia... OMIM:181270
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, High palate, High, narrow palate, Scoliosis OMIM:177850
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Deeah Syndrome
Alacrima OMIM:619004
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Loss of eyelashes, Thin eyebrow, Sparse hair ORPHA:2636
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail ORPHA:79404
Cerebrocostomandibular Syndrome
Tracheomalacia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of the 5th finge... ORPHA:1393
Sarcoidosis, Susceptibility To, 1
Epiphora OMIM:181000
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased lacrimation ORPHA:572333
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail OMIM:100300
Schinzel-Giedion Syndrome
Alacrima ORPHA:798
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Loss of eyelashes, Patchy alopecia, Delaye... ORPHA:740
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Astigmatism, Scoliosis, Dysphagia OMIM:619482
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Relapsing Polychondritis
Alopecia ORPHA:728
African Trypanosomiasis
Impotence, Alopecia, Infertility, Abnormality of the menstrual cycle ORPHA:3385
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Increased tear production, Depression ORPHA:95455
Kikuchi-Fujimoto Disease
Alopecia ORPHA:50918
Chronic Graft Versus Host Disease
Alopecia, Onycholysis, Nail dystrophy ORPHA:99921
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis ORPHA:171629
Behcet Syndrome
Patchy alopecia OMIM:109650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Dysphagia, Tapered finger OMIM:618367
Sarcoidosis
Alopecia ORPHA:797
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, Aplasia/Hypop... ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Epididymis - hypoplasia Nsun2tm1a(EUCOMM)Wtsi HOM Early adult
Testes - process of degenerative change Nsun2tm1a(EUCOMM)Wtsi HOM Early adult
Eye with optic nerve - MPATH diagnostic term synechia Nsun2tm1a(EUCOMM)Wtsi HOM Early adult
Eye with optic nerve - developmental and structural abnormality Nsun2tm1a(EUCOMM)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nsun2.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RNA methyltransferase NSun2 deficiency promotes neurodegeneration through epitranscriptomic regulation of tau phosphorylation. Acta neuropathologica (November 2022) Nsun2tm1c(EUCOMM)Wtsi PMC9807547
Neuronal Nsun2 deficiency produces tRNA epitranscriptomic alterations and proteomic shifts impacting synaptic signaling and behavior. Nature communications (August 2021) Nsun2tm1c(EUCOMM)WtsiOulu PMC8363735
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nsun2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nsun2tm1a(EUCOMM)Wtsi Nsun2tm1a(EUCOMM)Wtsi PMC6459510
Cytosine-5 RNA Methylation Regulates Neural Stem Cell Differentiation and Motility. Stem cell reports (December 2016) Nsun2tm1a(EUCOMM)Wtsi PMC5233436
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome open research (January 2016) Nsun2tm1a(EUCOMM)Wtsi PMC5159622
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS genetics (October 2014) Nsun2tm1a(EUCOMM)Wtsi PMC4207618
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Nsun2tm1a(EUCOMM)Wtsi PMC3996542
The mouse cytosine-5 RNA methyltransferase NSun2 is a component of the chromatoid body and required for testis differentiation. Molecular and cellular biology (February 2013) Nsun2tm1a(EUCOMM)Wtsi PMC3624257
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. American journal of human genetics (April 2012) Nsun2tm1a(EUCOMM)Wtsi PMC3376419
The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate. PLoS genetics (December 2011) Nsun2tm1c(EUCOMM)Wtsi Nsun2tm1a(EUCOMM)Wtsi PMC3228827

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nsun2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nsun2tm1c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Nsun2tm42933(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nsun2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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