Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Legacy Phenotype Associated Images

View all 268 images

View all 6 images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 17
Male infertility OMIM:617214
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia OMIM:610753
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
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hypotrichosis Simplex
Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia ORPHA:55654
Alopecia Universalis Congenita
Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis OMIM:203655
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
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 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Hypotrichosis 4
Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia OMIM:146550
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Alopecia Areata 1
Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis OMIM:104000
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,... OMIM:615059
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
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 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia ORPHA:505
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai... ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia OMIM:617294
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Cognitive impairment ORPHA:1484
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Trichodysplasia-Xeroderma Syndrome
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb... ORPHA:3361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Hyperlordosis, Short long bone, Knee dislocation, Tooth agenesis, Joint hypermobi... OMIM:618363
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Increased laxity of ankles, Flat acetabul... ORPHA:750
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
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
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Spar... ORPHA:189
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:262000
Cortisone Reductase Deficiency 1
Oligomenorrhea, Infertility, Hirsutism, Alopecia OMIM:604931
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Desbuquois Dysplasia 1
Developmental glaucoma, Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral ... OMIM:251450
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Inguinal hernia, Abnormal form of the... ORPHA:577
Crandall Syndrome
Brittle hair, Sparse body hair, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili ... ORPHA:202
Corneal Dystrophy, Meesmann, 2
Epiphora OMIM:618767
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Hyperlordosis, Increased adipose tissue, Elevated circulating creatin... OMIM:617404
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, ... ORPHA:3085
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenail morpholo... ORPHA:248
L-Ferritin Deficiency
Alopecia OMIM:615604
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Erlenmeyer flask deformity of t... OMIM:610539
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Anterior... OMIM:255800
Ck Syndrome
Retrognathia, Abnormal cortical bone morphology, Hyperactivity, Dental crowding, Scoliosis, Hyper... OMIM:300831
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Talipes equinovarus, Hitchhiker t... OMIM:222600
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Astigmatism, Hypospadias, Broad distal phalanx of finger, Sandal gap, Dental crowd... OMIM:615761
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Elbow flexion contracture, Hyperlordosis, Elevated circulating creatine kinase concent... OMIM:600175
Marie Unna Hereditary Hypotrichosis
Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al... ORPHA:444
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Monilethrix
Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia OMIM:158000
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Candidiasis, Familial, 1
Alopecia OMIM:114580
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Azoospermia,... OMIM:615703
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Epithelial Recurrent Erosion Dystrophy
Epiphora OMIM:122400
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Joint hypermobil... ORPHA:536516
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Dental malocclusion, Hyperactivity, Dental crowding, Scoliosis, Mandib... OMIM:610883
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Everted lower lip vermilion, Lumbar kyphosis in infancy, Hypogonadism, External g... ORPHA:3041
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Thumb Deformity And Alopecia
Alopecia OMIM:188150
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Nail dystrophy, Ridged nail, Alopecia OMIM:601705
Dacryocystitis-Osteopoikilosis Syndrome
Lacrimation abnormality ORPHA:1562
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Thrombocytosis, Metaphyseal sclerosis, Clubbing of fingers, S... ORPHA:2905
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Mucopolysaccharidosis, Type Iva
Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Wide mouth, Joint hypermobility, Co... OMIM:253000
Björnstad Syndrome
Alopecia, Hypogonadism, Brittle hair ORPHA:123
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Corneal opacity, Kyphosis, Joint stiffness, Constricted iliac wing, Wide mouth, Jo... OMIM:253010
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Hip contr... OMIM:615290
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Scoliosis, Hyperlordosis, High palate, Everted lower lip vermi... ORPHA:1387
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Osteoporosis, Crypt... ORPHA:408
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ... OMIM:620058
Anauxetic Dysplasia 2
Cubitus valgus, Hypodontia, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instabili... OMIM:617396
Pili Torti
Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ... ORPHA:2889
Hypotrichosis 5
Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th... OMIM:612841
Congenital Disorder Of Glycosylation, Type Il
Short nose, Hepatomegaly, Kyphosis, Failure to thrive, Hypoalbuminemia, Lipodystrophy, Splenomega... OMIM:608776
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Hip osteoarthritis, Abnormal intervertebral disk morphology, Abnormality of the ... ORPHA:99642
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Hyperlordosis, Corneal opacity, Kyphosis, Wide mouth, Joint hypermo... ORPHA:582
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Ectodermal Dysplasia 4, Hair/Nail Type
Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ... OMIM:602032
Myosclerosis, Autosomal Recessive
Spinal rigidity, Elevated circulating creatine kinase concentration, Thoracolumbar scoliosis, Ach... OMIM:255600
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypohidrosis, Sparse eyebrow, Fine... ORPHA:1882
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Absence Deformity Of Leg-Cataract Syndrome
Abnormal femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Lower limb un... ORPHA:2310
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Ankle clonus, Atlantoaxial instability, Hypoplasia of ... OMIM:600561
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Alopecia OMIM:616487
Corneal Dystrophy, Meesmann, 1
Epiphora OMIM:122100
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Short iliac bones, Intervertebral spa... OMIM:271530
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Wrist flexion contracture, ... ORPHA:800
Winchester Syndrome
Carpal osteolysis, Arthropathy, Gingival overgrowth, Corneal opacity, Broad metacarpals, Kyphosis... OMIM:277950
Alg12-Cdg
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla... ORPHA:79324
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Ck Syndrome
Kyphoscoliosis, Hyperactivity, Dental crowding, High palate, Slender build, Long fingers, Malar f... ORPHA:251383
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Short long bone, Metaphyseal irregularity, Joint hypermobility, Long philtrum, Hip... OMIM:616007
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Congenital bilateral hip dislocation, Kyphosis, Cataract, Small for gestational ag... ORPHA:85288
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Congenital foot contractures, Scoliosis, Hip contracture, Narrow pelvis bone, Knee flexion contra... OMIM:602484
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Kerion Celsi
Alopecia ORPHA:499
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Moynahan Syndrome
Alopecia, Hypogonadism, Sparse hair ORPHA:2574
Oculoskeletodental Syndrome
Retrognathia, Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Oligodontia, Microdontia... ORPHA:557003
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy... ORPHA:970
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Scoliosis, Thoracic ... OMIM:609223
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Amelogenesis imperfecta, Diaphyseal dysplasia, Hepatomegaly, Elevated circulating... OMIM:614727
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope... ORPHA:763
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Hyperlordosis, Elevated creatine kinase after exercise, Slender b... ORPHA:352470
Congenital Myopathy 2A, Typical, Autosomal Dominant
Retrognathia, Spinal rigidity, Scoliosis, Hyperlordosis, High palate, Slender build, Dysphagia, M... OMIM:161800
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky... OMIM:300718
Alpha-Mannosidosis
Corneal opacity, Kyphosis, Splenomegaly, Narrow palate, Inguinal hernia, Craniofacial hyperostosi... ORPHA:61
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Down Syndrome
Sandal gap, Microdontia, Umbilical hernia, Joint hypermobility, Narrow palate, Keratoconus, Abnor... ORPHA:870
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Decreased bo... OMIM:618392
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Abnormality of the wrist, Abnormal zygomatic bone morphology, Abnormal... ORPHA:2511
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Oliver-Mcfarlane Syndrome
Long eyebrows, Long eyelashes, Sparse hair, Hypogonadotropic hypogonadism, Alopecia OMIM:275400
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Kyphosis, Fla... ORPHA:93314
Rhizomelic Chondrodysplasia Punctata, Type 2
Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts, Zon... OMIM:222765
Ectodermal Dysplasia 7, Hair/Nail Type
Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse... OMIM:614929
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Kyphoscoliosis, Rocker bottom foot, Abnormal hip bone morphology, Hyperlordosis, Short long bone,... ORPHA:457395
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Lumbar hyperlordosis ORPHA:280333
Keratosis Pilaris Atrophicans
Epiphora OMIM:604093
Nemaline Myopathy 2
Long philtrum, Spinal rigidity, Scoliosis, Hyperlordosis, High palate, Narrow mouth, Congenital c... OMIM:256030
Squalene Synthase Deficiency
Retrognathia, Hypospadias, Slender long bone, Increased circulating farnesol concentration, Elbow... OMIM:618156
Familial Anetoderma
High, narrow palate, Abnormal tibia morphology, Irregular dentition, Lumbar hyperlordosis, Genera... ORPHA:228277
Rigid Spine Syndrome
Spinal rigidity, Scoliosis, Elbow flexion contracture, Hyperlordosis, Hamstring contractures, Hip... ORPHA:97244
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Spinal rigidity, Elbow flexion contracture, Hyperlordosis, Wrist flexi... ORPHA:267
Camurati-Engelmann Disease
Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Hypogonad... ORPHA:1328
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Congenital foot contraction deformities, Hyperlordosis, Flexion contracture, Hip dysplasia ORPHA:363454
Atelosteogenesis, Type Ii
Sandal gap, Short greater sciatic notch, Bifid humerus, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Striatonigral Degeneration, Childhood-Onset
Dysphagia, Elevated circulating creatine kinase concentration, Lumbar hyperlordosis, Ankle clonus OMIM:617054
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity, Kyphosis, Joint stiffness,... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Inguinal hernia, Meta... OMIM:184250
Trichorhinophalangeal Syndrome, Type I
Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ... OMIM:190350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Macroglossia, Elevated circulating creatine kinase concentration, Flexi... OMIM:613156
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Cutis Laxa, Autosomal Recessive, Type Iie
Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Inguinal hernia, Scolio... OMIM:619451
Mucolipidosis Iii Gamma
Genu valgum, Claw hand deformity, Flat capital femoral epiphysis, Shoulder contracture, Scoliosis... OMIM:252605
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male... OMIM:615381
Keratoendotheliitis Fugax Hereditaria
Epiphora OMIM:148200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Talipes equinovarus, Scoliosis, Kyphosis, Obesity, Lumbar hyperlordosis, Hip dislocation OMIM:616756
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Pathologic fracture, Abnormality of the vertebral column, Hyperlor... ORPHA:52430
3M Syndrome
Rocker bottom foot, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypoplastic ischia, Hyp... ORPHA:2616
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, High palate, Thoracolumbar scoliosis... OMIM:610313
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis, High palate, Slender build, Achilles tendon contracture, Dysphagia OMIM:620389
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy... ORPHA:3319
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck OMIM:168400
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, High palate, Kyphosis, Joint contracture, Ankle clonus OMIM:611225
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S... OMIM:129500
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Inguinal hernia, Joint contracture of the 5th finger, Hyperactivity, Short philtrum... ORPHA:352490
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Malar prominence, Microcornea, Scoliosis, Kyphosis, Finger joint cont... ORPHA:48431
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Martsolf Syndrome 1
Slender ulna, Short metacarpal, Broad femoral neck, Joint hypermobility, Long philtrum, Inguinal ... OMIM:212720
Developmental And Epileptic Encephalopathy 73
Short nose, Inguinal hernia, Scoliosis, Failure to thrive, Flexion contracture, Restlessness, Hip... OMIM:618379
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Flat acetabular roof, Long ... OMIM:156530
Pseudodiastrophic Dysplasia
Rhizomelia, Talipes equinovarus, Scoliosis, Camptodactyly, Failure to thrive, Micrognathia, Hypop... OMIM:264180
Ectodermal Dysplasia-Syndactyly Syndrome 1
Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai... OMIM:613573
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Glossoptosis, Abnormally ossified vertebrae, Short metacarpal, Bifid u... ORPHA:1427
Three M Syndrome 1
Long philtrum, Increased vertebral height, Clinodactyly of the 5th finger, Hypospadias, Joint dis... OMIM:273750
Monilethrix
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Spinal rigidity, Hyperinsulinemia, Elevated circulating hepatic... OMIM:613327
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F... OMIM:226980
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Congenital Myopathy 16
Spinal rigidity, Scoliosis, High palate, Narrow mouth, Micrognathia, Flexion contracture, Lumbar ... OMIM:618524
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Self-mutilation, Dental crowding, Tibial bowing, Microdontia, Agene... ORPHA:251028
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, Massively thickened... ORPHA:1798
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Oligodontia, Hyperlord... OMIM:616817
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short ... ORPHA:63446
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperlordosis, Cataract, A... ORPHA:369840
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hyperlordosis, Kyphosis, Long philtrum, Short 5th finger, Short philtrum, Scoliosis, Compulsive b... OMIM:618443
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Congenital aphakia, Short dental root, Microdontia, Biconcave ve... ORPHA:93357
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis, Talipes equinovarus, Joint contracture of the hand OMIM:611067
48,Xxyy Syndrome
Hypoplasia of penis, Joint hypermobility, Taurodontia, Inguinal hernia, Azoospermia, Broad jaw, S... ORPHA:10
Schimke Immunoosseous Dysplasia
Microdontia, Lymphopenia, Neutropenia, Astigmatism, Pancytopenia, Opacification of the corneal st... OMIM:242900
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Spina bifida oc... ORPHA:2780
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Delayed ossification of carpal bones, Short dental root, Biconcave vertebral bodi... OMIM:271510
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Hip contracture, Lumbar hyperlordosis OMIM:619042
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Hepatomegaly, Elevated ci... OMIM:212065
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Atrophic scars, Elevated circulating creatine kinase conce... OMIM:616471
1Q21.1 Microduplication Syndrome
Hypospadias, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Failur... ORPHA:250994
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hyperlordosis, Limitation of joint mobility, Type I diabetes mellitus, Cryptorchidism ORPHA:1192
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Abno... ORPHA:93352
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Mandibular progn... OMIM:265900
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of finger... OMIM:114300
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepati... OMIM:607765
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Long eyelashes, Hypogonadism, Sparse hair ORPHA:3363
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Mandibular prognathia... ORPHA:2831
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Otodental Syndrome
Microphthalmia, Agenesis of premolar, Abnormality of canine, Iris coloboma, Delayed eruption of t... ORPHA:2791
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Pseudopelade Of Brocq
Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:129
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Paget disease of bone, Elevated circulating creatin... OMIM:167320
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Butterfly vertebrae, Long philtrum, Genu valgum, Monkey wrench femoral n... OMIM:618870
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernail dysplasia, Alopecia ORPHA:2251
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Elevated circulating creatine kinase concentration, Achilles tendon contracture, T... ORPHA:62
Abetalipoproteinemia
Kyphoscoliosis, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepati... ORPHA:14
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Hyperactivity, Microdonti... OMIM:617052
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, High palate, Elevated circulating creatine kinase c... OMIM:619542
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo... ORPHA:15
Masa Syndrome
Talipes equinovarus, Adducted thumb, Hyperlordosis, Kyphosis OMIM:303350
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge... ORPHA:2325
Microphthalmia, Lenz Type
Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hypospadias, Delay... ORPHA:568
Dubowitz Syndrome
Aplastic anemia, Hyperactivity, Syndactyly, Hypocholesterolemia, Sacral dimple, Hypospadias, Ingu... OMIM:223370
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse body hair, Congenital onyc... ORPHA:2890
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Mandibular prognathia, Hyp... OMIM:615222
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hypospadias, Abnormal hip bone morphology, Hyperlordosis, Kyphosis, Abn... ORPHA:2522
Kaufman Oculocerebrofacial Syndrome
Short nose, Clitoral hypertrophy, Astigmatism, Clinodactyly of the 5th finger, Microcornea, High ... OMIM:244450
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upp... OMIM:618728
Schimke Immuno-Osseous Dysplasia
Abnormal femoral head morphology, Corneal opacity, Hyperlipidemia, Microdontia, Hypoplastic pelvi... ORPHA:1830
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Widened interpedicular... OMIM:146000
Ogden Syndrome
Everted upper lip vermilion, Sandal gap, Dysphagia, Umbilical hernia, Long philtrum, Narrow palat... OMIM:300855
Usmani-Riazuddin Syndrome, Autosomal Dominant
Short finger, Clinodactyly of the 5th finger, Hyperactivity, 2-3 toe syndactyly, Thoracic kyphosi... OMIM:619467
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Metaphyseal irregularity, Joint hypermo... OMIM:618019
Cohen Syndrome
Childhood-onset truncal obesity, Genu valgum, Cubitus valgus, Decreased response to growth hormon... OMIM:216550
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Decreased cervical spine flexion due to contractures of po... ORPHA:98855
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint hypermobility, Pappenheimer bodies, Hyperlordosis, High palate, Failure to thrive, Siderobl... OMIM:600462
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Achilles ... OMIM:606612
Temple Syndrome
Hypertriglyceridemia, Bifid uvula, Joint hypermobility, Clinodactyly, Short philtrum, Scoliosis, ... OMIM:616222
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abnormal intervertebral disk m... ORPHA:2635
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Decreased cervical spine flexion due to contractures of po... ORPHA:98863
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Alopecia OMIM:615704
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ... OMIM:603546
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Astigmatism, Cervical C2/C3 vertebral fusion, Short philtrum, Hyperac... OMIM:617796
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Mandibular prognathia, Premature osteoarthritis, B... OMIM:165800
Porphyria Cutanea Tarda
Onycholysis, Facial hypertrichosis, Alopecia OMIM:176100
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick lower lip vermilion, Gin... OMIM:618658
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Combined Oxidative Phosphorylation Deficiency 47
Long philtrum, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Platyspondy... OMIM:618958
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Rocker bottom foot, Long philtrum, Coxa valga, Elbow flexion contracture, Camptod... OMIM:214150
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ... ORPHA:93315
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Hyperactivity, Prominent fingertip pads, Long philtrum, S... OMIM:609625
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, High palate, Camptodactyly, Kyphosis, Arthrogryposis multiplex ... OMIM:618393
Nail-Patella Syndrome
Spondylolysis, Reduced bone mineral density, Spondylolisthesis, Abnormal femur morphology, Disloc... ORPHA:2614
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Knee dislocation, Broad... OMIM:615777
Nemaline Myopathy 7
Kyphoscoliosis, Genu recurvatum, High palate, Knee flexion contracture, Lumbar hyperlordosis OMIM:610687
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Butterfly vertebrae, Hyperplasia of the maxilla, Aggressive behavior, Dental crowd... ORPHA:313892
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormality of the wrist, Abnormal femur morphology, Abnormal hip... ORPHA:3130
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Sparse hair, Alopecia OMIM:104100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Cholecystitis, Aggressive behavior,... OMIM:301066
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Narrow mouth, Micrognathia, Developmental cataract, Hypocholesterolemia, Micropenis... OMIM:618810
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Proximal placement of thumb, Hyperactivity, Broad alveolar ridges, Den... OMIM:270400
Schaaf-Yang Syndrome
Rocker bottom foot, Retrognathia, Kyphosis, Impulsivity, Hypogonadism, Clinodactyly, Scoliosis, A... OMIM:615547
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Decreased cervical spine flexion due to contractures of po... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Spinal rigidity, Decreased cervical spine flexion due to contractures of po... ORPHA:98853
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elbow flexion contracture, Thoracic kyphosis, Elevated circulating creatine kinase concentration,... ORPHA:206546
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Short philtrum, Scol... ORPHA:2479
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Hyperlordosis, Everted lower lip vermilion, Camptodactyly, Enamel h... OMIM:619980
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Joint hypermobility, Short philtrum, Scoliosis, Hyperlordosis, Recurrent hand flapping, Compulsiv... OMIM:300986
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Talipes equinovarus, Flared met... OMIM:602471
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... OMIM:271650
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Hypospadias, Short metatarsal, Hyperactivity, Mandibular prognathia, Short metacarpal... OMIM:614613
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphoscoliosis, Hypertriglyceridemia, Sandal gap, Kyphosis, Arachnodactyly, Equinus calcaneus, Ab... ORPHA:536532
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Hypoplasia of the prostate, Shortening of all middle phalanges of... OMIM:301900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac... ORPHA:508533
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, External genital h... ORPHA:99330
Myasthenic Syndrome, Congenital, 14
Distal joint hypermobility, Scoliosis, Hyperlordosis, High palate, Knee flexion contracture, Mild... OMIM:616228
Typical Nemaline Myopathy
Spinal rigidity, Genu valgum, Scoliosis, Hyperlordosis, High palate, Elevated circulating creatin... ORPHA:171436
Wieacker-Wolff Syndrome
U-Shaped upper lip vermilion, Retrognathia, Proximal placement of thumb, Congenital foot contract... OMIM:314580
2Q24 Microdeletion Syndrome
Short philtrum, Abnormality iris morphology, Bullet-shaped distal phalanx of the hallux, Failure ... ORPHA:1617
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia of the ey... ORPHA:2850
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, T lymphocytope... ORPHA:2959
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Hyperlordosis, Limitation of joint mobility, Flexion contracture, Join... ORPHA:157973
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios... OMIM:234250
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Scoliosis, Kyphosis, Small hand, Bruxism, Short foot, Talipes equinovarus, Hip dis... OMIM:300434
Ullrich Congenital Muscular Dystrophy
Abnormal palate morphology, Spinal rigidity, Adducted thumb, Scoliosis, Elbow flexion contracture... ORPHA:75840
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Myopathy, Distal, 1
Scoliosis, High palate, Elevated circulating creatine kinase concentration, Mildly elevated creat... OMIM:160500
Hallermann-Streiff Syndrome
Hyperactivity, Hyperlordosis, Everted lower lip vermilion, Joint hypermobility, Decreased number ... OMIM:234100
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Microdontia, Joint hypermobility, Cervical subluxation, Sho... OMIM:607095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Ambiguous genitalia, Platyspondyly, Proximal placement of thumb, ... ORPHA:93267
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Prader-Willi Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Radial deviation of finger, Kyphos... OMIM:176270
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Achilles ten... OMIM:619719
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis ORPHA:700
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Short metacarpal, Tarsal synostosis, Inguinal hernia, Bowed humerus, Scoliosis, Cl... OMIM:272460
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Scoliosis, Atrophic scars, H... OMIM:130060
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, External genital hypoplasia, Craniosynostosis, Talipes ... ORPHA:65759
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, Hypoplasia of the primary teeth, Long nose, Dental ... OMIM:257850
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Metaphyseal irregularity, Joint hypermobility, Genu varum, Anterior polar catara... OMIM:250420
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Failur... OMIM:266510
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Myopathy, Myofibrillar, 7
Spinal rigidity, Talipes equinovarus, Shoulder flexion contracture, Scoliosis, Elbow flexion cont... OMIM:617114
Intellectual Developmental Disorder, Autosomal Dominant 29
Sandal gap, Hyperactivity, Dental crowding, Hyperlordosis, Long philtrum, Aggressive behavior, Na... OMIM:616078
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Intellectual Developmental Disorder, Autosomal Dominant 26
Clinodactyly of the 5th finger, Inguinal hernia, Short philtrum, Hyperactivity, Scoliosis, Narrow... OMIM:615834
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Chondroectodermal Dysplasia With Night Blindness
Epiphora, Difficulty walking, Gait disturbance ORPHA:319195
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Limited elbow movement, Adducted thumb, Scoliosis... OMIM:615065
Three M Syndrome 3
Long philtrum, Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Hyp... OMIM:614205
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis, Kyphosis, Arthrogr... OMIM:618484
48,Xxxy Syndrome
Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Joint hypermobil... ORPHA:96263
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, High palate, Congenital hip dislocation, Failure to thrive, Limb joint contracture, Dy... OMIM:255310
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con... OMIM:313420
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis, Compulsive behaviors, Thin upper lip vermilion, Wide... OMIM:617450
Epidermolysis Bullosa, Junctional 1A, Intermediate
Nail dystrophy, Palmar hyperhidrosis, Patchy alopecia, Fragile nails OMIM:226650
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Bilateral cleft palate, Hyperlordosis, Hypo... ORPHA:3253
Congenital Myopathy 10B, Mild Variant
Scoliosis, Hyperlordosis, High palate, Elevated circulating creatine kinase concentration, Knee c... OMIM:620249
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality ORPHA:1135
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Hepatomegaly, Increased vertebral height, Short philtrum, Pancytopenia, ... OMIM:613385
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Limb undergrowth, Enlarged joints, Bowing of the legs, Lumbar hyperlordosis ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Splenomegaly, Metaphyseal irregularity, Joint hypermobility, Genu v... OMIM:602557
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Scoliosi... ORPHA:2169
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Decreased lacrimation, Falls, Mental deterioration, Social and occupati... ORPHA:240071
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Spinal rigidity, Elevated circulating creatine kinase concentration, Joint stiffness, Flexion con... OMIM:609308
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, Limitation of joint m... OMIM:313400
Lateral Meningocele Syndrome
High, narrow palate, Inguinal hernia, Abnormal form of the vertebral bodies, Craniofacial hyperos... ORPHA:2789
Microcephalic Primordial Dwarfism, Montreal Type
Lipoatrophy, Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Vertebral segme... ORPHA:2617
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovarian morphology, A... ORPHA:95699
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ingu... ORPHA:137834
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Conjunctival icterus, Hyperbilir... OMIM:606812
Mulchandani-Bhoj-Conlin Syndrome
Retrognathia, Scoliosis, Hyperlordosis, 2-3 toe syndactyly, Failure to thrive, Clinodactyly OMIM:617352
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f... ORPHA:163649
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Nuclear cataract, Abnormal circu... ORPHA:79237
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis, Delayed eruption of teeth, Microdontia, Tooth agenesis... ORPHA:633
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Bone...