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Gene: Nsun2 MGI:107252

Gene Summary

Name:

NOL1/NOP2/Sun domain family member 2

Synonyms:

Misu

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal gait	Nsun2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.53×10^-05
abnormal humerus morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.08×10^-05
abnormal joint morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.18×10^-05
abnormal eye size	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.11×10^-05
abnormal response to new environment	Nsun2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.08×10^-05
abnormal gait	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.94×10^-05
excessive tearing	Nsun2^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.89×10^-05
abnormal tooth morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.39×10^-05
abnormal snout morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.37×10^-05
abnormal cornea morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.18×10^-06
decreased body weight	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal cranium morphology	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.13×10^-06
preweaning lethality, incomplete penetrance	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	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

Nsun2^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
forearm, WT, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
body, WT, Male, WTSI

View all 268 images

Nsun2^{tm1a(EUCOMM)Wtsi}
eye, abnormal cornea morphology, corneal opacity, corneal vascularization, HOM, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, abnormal cornea morphology, HOM, Female, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
eye, abnormal cornea morphology, narrow eye opening, excessive tearing, HOM, Male, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
eye, corneal vascularization, narrow eye opening, corneal opacity, corneal ulcer, HOM, Female, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
eye, eyelids fail to open, HET, Female, WTSI

View all 6 images

Nsun2^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Nsun2^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Nsun2^{tm1a(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.

Human diseases associated with Nsun2 (2 diseases)
Human diseases predicted to be associated with Nsun2 (1591 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Dubowitz Syndrome		Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Abnormal female external...	ORPHA:235
Intellectual Developmental Disorder, Autosomal Recessive 5		Wide nasal bridge, Increased circulating lactate dehydrogenase concentration, Thick upper lip ver...	OMIM:611091

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	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	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, 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	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	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	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica...	OMIM:618363
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Cortisone Reductase Deficiency 1	Infertility, Alopecia, Oligomenorrhea, Hirsutism	OMIM:604931
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J...	ORPHA:577
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Aplasia/Hypoplasia...	ORPHA:202
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Keloids, Secondary amenorrhea, Short toe, Decreased testicular size, Hyperinsulinemia, ...	ORPHA:3085
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Increased adipose tissue, Elevated circulating creatine kinase concentration, Hyperlord...	OMIM:617404
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
L-Ferritin Deficiency	Alopecia	OMIM:615604
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg...	OMIM:222600
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, ...	OMIM:615761
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Elevated circulat...	OMIM:600175
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h...	ORPHA:40
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Oral-pharyngeal d...	OMIM:610883
Myopathic Ehlers-Danlos Syndrome	Joint contracture of the hand, Micrognathia, Talipes equinovarus, Patellar subluxation, High, nar...	ORPHA:536516
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Azoospermia, Increased LDL cholesterol concentration, Type II diabetes mellit...	OMIM:615703
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Thoracolumbar scoliosis, Everted lower lip vermilion, Patell...	ORPHA:3041
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism...	ORPHA:2905
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec...	OMIM:253000
Björnstad Syndrome	Hypogonadism, Alopecia, Brittle hair	ORPHA:123
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Bilateral...	OMIM:253010
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Cataract, Furrowed tongue, Abnormal distal phalanx ...	ORPHA:1387
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Ta...	OMIM:615290
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Flexion contracture, Hypoplasia of the femoral head, Hypod...	OMIM:617396
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Elevated circulating creatine kinase concentration, Hyperlordosis, Osteoporosis, ...	ORPHA:408
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hip dislocation, Failure to thrive, Long philtrum, Hypocholesterolemia, Splenome...	OMIM:608776
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Flattened femoral head, Hump-shaped mound of bone in central a...	ORPHA:99642
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Joint dislocation, Corn...	ORPHA:582
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Sp...	ORPHA:1882
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Hyper...	ORPHA:2310
Myosclerosis, Autosomal Recessive	Spinal rigidity, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Thorac...	OMIM:255600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Alg12-Cdg	Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Cryptorchidism, Talipes equinovarus, A...	ORPHA:79324
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones...	OMIM:271530
Winchester Syndrome	Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Corneal o...	OMIM:277950
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G...	ORPHA:800
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Lumbar hy...	OMIM:618167
Ck Syndrome	Microretrognathia, Dental crowding, Slender build, Lumbar hyperlordosis, Malar flattening, Kyphos...	ORPHA:251383
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, Hyperactivity, Sma...	ORPHA:85288
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Arthrogryposis multiplex congenita, Lumbar hyperlordosis, Hip contracture, Knee flexion contractu...	OMIM:602484
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Kerion Celsi	Alopecia	ORPHA:499
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Moynahan Syndrome	Hypogonadism, Alopecia, Sparse hair	ORPHA:2574
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver...	OMIM:609223
Oculoskeletodental Syndrome	Wide nasal bridge, Abnormality of the dentition, Short 5th finger, Retrognathia, Clinodactyly, Hy...	ORPHA:557003
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Hepatosplenome...	ORPHA:763
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Failure to thrive, Elevated circulating aspartate aminotransferase concentr...	OMIM:614727
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Open bite, Type II diabetes mellitus, Bowing of ...	ORPHA:61
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Decreased mitochondrial number, Multiple joint contractures, Hyperlordosis, Elevat...	ORPHA:352470
Congenital Myopathy 2A, Typical, Autosomal Dominant	Arthrogryposis multiplex congenita, Retrognathia, Slender build, Hyperlordosis, Dysphagia, High p...	OMIM:161800
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Spinal ...	ORPHA:429
Down Syndrome	Atlantoaxial dislocation, Keratoconus, Narrow mouth, Protruding tongue, Open mouth, Type II diabe...	ORPHA:870
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Flexion contractur...	OMIM:300718
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Small for gestational age, Reduced bone mineral density, Inguinal hernia, Decreased bod...	OMIM:618392
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closure, Abnormality of the w...	ORPHA:2511
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Oliver-Mcfarlane Syndrome	Alopecia, Long eyelashes, Hypogonadotropic hypogonadism, Long eyebrows, Sparse hair	OMIM:275400
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Knee contracture, Hip contracture, High palate, Irregular vertebral endplates, Cata...	OMIM:222765
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:280333
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Squalene Synthase Deficiency	Retrognathia, Slender long bone, Bilateral cryptorchidism, Elbow flexion contracture, Hypocholest...	OMIM:618156
Nemaline Myopathy 2	Hand clenching, Congenital contracture, Arthrogryposis multiplex congenita, Long philtrum, Flexio...	OMIM:256030
Familial Anetoderma	High, narrow palate, Abnormal tibia morphology, Lumbar hyperlordosis, Irregular dentition, Genera...	ORPHA:228277
Rigid Spine Syndrome	Elbow flexion contracture, Hamstring contractures, Hip contracture, Hyperlordosis, Scoliosis, Spi...	ORPHA:97244
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Flexion contracture, Congenital foot contraction deformities, Hyperlordosis, Hip dysplasia	ORPHA:363454
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Elbow flexion contracture, Hamstring contractures, Elevated circulatin...	ORPHA:267
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Gm1 Gangliosidosis	Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Oral aversion, Weight loss, Mandib...	ORPHA:354
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Ankle clonus, Dysphagia, Elevated circulating creatine kinase concentration	OMIM:617054
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v...	OMIM:184250
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Abnormal ...	OMIM:190350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Open mouth, Cryptorchidism, Elevated circulating creatine kinase concentration, Hyperlordosis, Mi...	OMIM:613156
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Lumbar hyperlordosis, Clinodactyly o...	OMIM:619451
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Increased iduronate sulfatase level, Genu valgum, Claw hand ...	OMIM:252605
Keratoendotheliitis Fugax Hereditaria	Epiphora	OMIM:148200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Obesity, Talipes equinovarus, Scoliosis, Hip dislocation	OMIM:616756
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Lumbar hyperlordosis, Hyperlipidemi...	OMIM:615980
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, D...	OMIM:615381
3M Syndrome	Decreased fertility, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Hypospadias, Ab...	ORPHA:2616
Crisponi/Cold-Induced Sweating Syndrome 2	Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, ...	OMIM:610313
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Abnormality of the vertebral column, Pathologic fracture, Abnormal long bone morphology...	ORPHA:52430
Nemaline Myopathy 5C, Autosomal Dominant	Slender build, Hyperlordosis, Dysphagia, Achilles tendon contracture, High palate, Scoliosis	OMIM:620389
Congenital Amegakaryocytic Thrombocytopenia	Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n...	ORPHA:3319
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Joint contracture, High palate, Scoliosis, Kyphosis	OMIM:611225
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Joint contracture of the hand, Small for gestational age, Congenital contractu...	ORPHA:352490
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Hypoglycemia, Malar prominence, Micrognathia, Hypogonadotropic hypogonadis...	ORPHA:48431
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingertip, Finger joi...	OMIM:212720
Developmental And Epileptic Encephalopathy 73	Cataract, Failure to thrive, Inguinal hernia, Hip dysplasia, Flexion contracture, Restlessness, S...	OMIM:618379
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Pseudodiastrophic Dysplasia	Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Elbow dislocation, Failure to thri...	OMIM:264180
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Three M Syndrome 1	Short 5th finger, Mandibular prognathia, Small for gestational age, Joint dislocation, Slender lo...	OMIM:273750
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv...	OMIM:226980
Congenital Myopathy 16	Flexion contracture, Lumbar hyperlordosis, Micrognathia, Narrow mouth, High palate, Scoliosis, Sp...	OMIM:618524
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Talipes equinovarus, Short n...	ORPHA:251028
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Hypoplasia of the maxilla, Brachydactyly, Hy...	ORPHA:1798
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Downturned corners of mouth, Recurrent hypoglycemia, Micrognathia,...	OMIM:616817
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Small hand, Micrognathia, Narrow mouth, Genu valgum, Thoracolumbar scoliosis, Hepatomegaly, High ...	OMIM:618443
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Elevated circulating hepatic transaminase concentration, Failure ...	OMIM:613327
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Mic...	ORPHA:93357
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna...	ORPHA:10
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Talipes equinovarus, Joint contracture of the hand, Scoliosis, Hyperlordosis	OMIM:611067
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine ...	ORPHA:369840
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni...	OMIM:242900
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecul...	ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis, Hip contracture	OMIM:619042
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Osteopenia, Elevated circulating hepatic transaminase concentr...	OMIM:212065
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
1Q21.1 Microduplication Syndrome	Cataract, Arthrogryposis multiplex congenita, Failure to thrive, Cryptorchidism, Talipes equinova...	ORPHA:250994
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Limitation of joint mobility, Cryptorchidism, Hyperlordosis, Anemia	ORPHA:1192
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos...	ORPHA:93352
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Scheuermann Disease	Osteochondrosis, Kyphosis, Morbus Scheuermann	OMIM:181440
Arthrogryposis, Distal, Type 3	Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, ...	OMIM:114300
Pyle Disease	Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,...	OMIM:265900
Bethlem Myopathy 2	Kyphosis, Atrophic scars, Elevated circulating creatine kinase concentration, Distal joint hyperm...	OMIM:616471
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Hypogonadism	ORPHA:3363
Otodental Syndrome	Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ...	ORPHA:2791
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Clinodactyly of the 2nd finger, Long philtrum, Micromelia, ...	OMIM:618870
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytopenia, Oral ul...	ORPHA:811
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Micrognathia, Cryptor...	OMIM:223370
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cirrhosis, Hepatomega...	ORPHA:14
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul...	OMIM:617052
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Elevated circulating creatine kinas...	OMIM:167320
Achondroplasia	Flat acetabular roof, Cervical spinal canal stenosis, Obesity, Limited elbow extension, Knee join...	ORPHA:15
Masa Syndrome	Talipes equinovarus, Adducted thumb, Kyphosis, Hyperlordosis	OMIM:303350
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Microphthalmia, Lenz Type	Self-injurious behavior, Abnormality of the dentition, Iris coloboma, Cataract, Microcornea, Dela...	ORPHA:568
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Clitoral hypertrophy, Carious teeth, Microcornea, Failure to thrive, ...	OMIM:244450
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Elevated circulating creatine kinase concentration, Limited shoulder movement, Thoracic scoliosis...	ORPHA:62
King-Denborough Syndrome	Failure to thrive, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Kyphoscoliosis...	OMIM:619542
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Smith-Mccort Dysplasia 2	Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Broad femoral neck, ...	OMIM:615222
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Abn...	ORPHA:2522
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy...	OMIM:618728
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Malar flattening, Trident hand,...	OMIM:146000
Usmani-Riazuddin Syndrome, Autosomal Dominant	Self-injurious behavior, Long philtrum, Short finger, Lumbar hyperlordosis, 2-3 toe syndactyly, A...	OMIM:619467
Ogden Syndrome	Everted upper lip vermilion, Delayed cranial suture closure, Thick upper lip vermilion, Micrognat...	OMIM:300855
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Short neck, Neutropenia, Ovoid vertebral bodies, Abnormal...	ORPHA:1830
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Hypopituitar...	OMIM:600462
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Joint stif...	ORPHA:98855
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Joint hypermobility, Shor...	ORPHA:1803
Metatropic Dysplasia	Cataract, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyse...	ORPHA:2635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral f...	OMIM:606612
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hypohidrosis	OMIM:615704
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Intellectual Developmental Disorder, Autosomal Dominant 52	Downturned corners of mouth, Bilateral cryptorchidism, Pica, Lumbar hyperlordosis, Open mouth, Cr...	OMIM:617796
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Short thumb, Broad hallux, Premature osteoarthritis, Lumbar hyperlordosis, Os...	OMIM:165800
X-Linked Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Joint stif...	ORPHA:98863
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Zimmermann-Laband Syndrome 3	Wide nasal bridge, Bifid uvula, Short distal phalanx of finger, Aplasia of the distal phalanx of ...	OMIM:618658
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Cataract, Toe syndactyly, Elevated circulating hepatic transaminase concentration,...	OMIM:618958
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Micrognathia, Cryptorchidism, Cataract, Knee flexio...	OMIM:214150
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo...	ORPHA:628
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Hypocholesterolemia, Micrognathia, Narrow mouth, Hepatomegaly, Developmental c...	OMIM:618810
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Toe syndactyly, Micrognathia, Cryptorchidism, Short neck, High palate, Prominent f...	OMIM:609625
Fetal Akinesia Deformation Sequence 4	Wide nasal bridge, Retrognathia, Micrognathia, Cryptorchidism, Short neck, Camptodactyly, High pa...	OMIM:618393
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental ca...	OMIM:616834
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Nemaline Myopathy 7	Genu recurvatum, Lumbar hyperlordosis, Knee flexion contracture, Kyphoscoliosis, High palate	OMIM:610687
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the ma...	ORPHA:313892
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Overlapping toe, Micrognathia, Cryptorchidism, Hepatic...	OMIM:270400
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint morphology, Abnormality ...	ORPHA:3130
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Genu valgum, Open mouth, Talipes equinovarus, Everted lower lip vermilion, He...	OMIM:301066
Schaaf-Yang Syndrome	Small hand, Clinodactyly, Open mouth, Cryptorchidism, Polyphagia, Short foot, Mandibular prognath...	OMIM:615547
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla...	ORPHA:94068
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, Everted lowe...	OMIM:619980
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Prominent fingertip pads, Failure to thrive, Micrognathia, Thick vermili...	OMIM:300986
Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Joint stif...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Kyphosis, Elbow flexion contracture, Increased LDL cholesterol concentration, Obesity, Joint stif...	ORPHA:98853
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Delayed ossification...	OMIM:602471
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos...	OMIM:271650
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Cervica...	OMIM:301900
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Cone-shaped epiphysis, Spinal canal stenosis, Obesity, Cryptorchidism, Mal...	OMIM:614613
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elbow flexion contracture, Lumbar hyperlordosis, Elevated circulating creatine kinase concentrati...	ORPHA:206546
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Osteopenia, Megalocornea, Hypoplasia of the iris, Micrognathia, Open mouth, Me...	ORPHA:2479
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas...	ORPHA:99330
Wieacker-Wolff Syndrome	Broad alveolar ridges, Hip dislocation, Kyphosis, Retrognathia, Long philtrum, Arthrogryposis mul...	OMIM:314580
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Cryptorchidism, Ar...	ORPHA:536532
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality...	ORPHA:1617
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse scalp hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypergonadotrop...	ORPHA:2850
Progeria-Short Stature-Pigmented Nevi Syndrome	Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Hepatic steatosis, Prematur...	ORPHA:2959
Typical Nemaline Myopathy	Hip dislocation, Arthrogryposis multiplex congenita, Flexion contracture, Micrognathia, Genu valg...	ORPHA:171436
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Hyperlordosis, Distal joint hypermobility, High palate, Scoliosis, Mild...	OMIM:616228
Congenital Muscular Dystrophy Due To Lmna Mutation	Limitation of joint mobility, Joint hypermobility, Cachexia, Hyperlordosis, Flexion contracture, ...	ORPHA:157973
Hall-Riggs Syndrome	Platyspondyly, Kyphosis, Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary ...	OMIM:234250
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Kyphosis, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Scoliosis, Hip dis...	OMIM:300434
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small ep...	OMIM:608728
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Everted lower lip vermilion, High palate...	OMIM:234100
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Ullrich Congenital Muscular Dystrophy	Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Micrognathia, In...	ORPHA:75840
Anauxetic Dysplasia 1	Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Short toe, S...	OMIM:607095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Platyspondyly, Rhizomelia, Cataract, Abnormal epiphysis morphology, Downturned...	ORPHA:93267
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Myopathy, Distal, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, High palate, Scoliosis,...	OMIM:160500
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Incisor macrodontia, Lumbar hyperlordosis, Limit...	OMIM:619719
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Malar f...	OMIM:266510
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Prader-Willi Syndrome	Small scrotum, Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II di...	OMIM:176270
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Abnormal cornea morphology, Polysplenia, Umbilica...	ORPHA:65759
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout...	OMIM:257850
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Intellectual Developmental Disorder, Autosomal Dominant 29	Ankyloglossia, Cutaneous finger syndactyly, Open mouth, Narrow mouth, Cryptorchidism, High palate...	OMIM:616078
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Hypermobility of distal interphalangeal joints, Elbow flexion contrac...	OMIM:615065
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Small for gestational age, Arthrogryposis multiplex congenita, Umbilical herni...	OMIM:615834
Myopathy, Myofibrillar, 7	Spinal rigidity, Tongue atrophy, Shoulder flexion contracture, Increased circulating lactate dehy...	OMIM:617114
Three M Syndrome 3	Slender long bone, Long philtrum, Increased vertebral height, Decreased body weight, Joint hyperm...	OMIM:614205
Chondroectodermal Dysplasia With Night Blindness	Difficulty walking, Epiphora, Gait disturbance	ORPHA:319195
48,Xxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi...	ORPHA:96263
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Failure to thrive, Lumbar hyperlordosis, Dysphagia, Limb joint contra...	OMIM:255310
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Arthrogryposis multiplex congenita, Abnormal circulating creatine kina...	OMIM:618484
Jansen-De Vries Syndrome	Small hand, Thin upper lip vermilion, Attention deficit hyperactivity disorder, Hyperlordosis, Br...	OMIM:617450
Epidermolysis Bullosa, Junctional 1A, Intermediate	Palmar hyperhidrosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee fl...	OMIM:313420
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Abnormality of the dentition, Small scrotum, Carious teeth, Toe syndactyly, Hy...	ORPHA:3253
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Clinodactyly, Slender long bone, Hepatitis, Failure to thrive in infanc...	OMIM:613385
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Enlarged joints, Bowing of the legs	ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega...	OMIM:602557
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Pancytopenia, Abnormality of ...	ORPHA:2169
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Abnormal circulating creatine kinase concentration, Knee contracture, Elevated...	OMIM:620249
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Iris coloboma, Dental crowding, Abnormal form of ...	ORPHA:2789
Classic Progressive Supranuclear Palsy Syndrome	Mental deterioration, Falls, Akinesia, Gait imbalance, Social and occupational deterioration, Dec...	ORPHA:240071
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Micrognathia, Reduced bone mineral density, Cryptorchidism, Abnormal pa...	ORPHA:2617
Frank-Ter Haar Syndrome	Wide nasal bridge, Genu recurvatum, Mandibular prognathia, Delayed eruption of teeth, Camptodacty...	ORPHA:137834
Mulchandani-Bhoj-Conlin Syndrome	Retrognathia, Clinodactyly, Failure to thrive, 2-3 toe syndactyly, Hyperlordosis, Scoliosis	OMIM:617352
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul...	ORPHA:95699
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet...	ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Joint stiffness, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Flexio...	OMIM:609308
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Conjunctival icterus, Polycythemia, Failure to thrive,...	OMIM:606812
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract, Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Lumbar hy...	ORPHA:2848
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Short distal phalanx of finger, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Bruxism, Inappropriate laughter, Stereotypical hand wringin...	ORPHA:505652
Joubert Syndrome 37	Wide nasal bridge, Decreased testicular size, Lumbar hyperlordosis, Obesity, Cryptorchidism, Join...	OMIM:619185
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Cryptorchidism, T...	OMIM:611890
O'Donnell-Luria-Rodan Syndrome	Self-injurious behavior, Cryptorchidism, Skin-picking, Aggressive behavior, Prolonged neonatal ja...	OMIM:618512
Classic Galactosemia	Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia,...	ORPHA:79239
Lathosterolosis	Elevated gamma-glutamyltransferase level, Postaxial foot polydactyly, Thick upper lip vermilion, ...	OMIM:607330
Laron Syndrome	Delayed eruption of teeth, Hypoglycemia, Tooth agenesis, Short toe, Micrognathia, Microdontia, Hy...	ORPHA:633
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Polyphagia, Everted lower ...	OMIM:615873
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Elevated circulating hepatic transamin...	OMIM:300280
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Cat...	ORPHA:1856
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsu...	ORPHA:79237
Lead Poisoning	Delayed eruption of teeth, Decreased male libido, Decreased HDL cholesterol concentration, Abnorm...	ORPHA:330015
Cri-Du-Chat Syndrome	Cryptorchidism, Overfriendliness, Short neck, High palate, Hypospadias, Short metacarpal, Anterio...	OMIM:123450
Marinesco-Sjogren Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Cubitus valgus, Short meta...	OMIM:248800
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, H...	OMIM:606069
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Clinodactyly, Sl...	OMIM:612921
Distal Deletion 10Q	Clinodactyly, Micrognathia, High palate, Hip dislocation, Short nose, Prominent fingertip pads, T...	ORPHA:96148
19P13.12 Microdeletion Syndrome	Finger syndactyly, Cryptorchidism, Hepatic steatosis, Short neck, Hypospadias, Precocious puberty...	ORPHA:254346
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve...	OMIM:250460
Livedoid Vasculopathy	Polycythemia, Abnormal circulating lipid concentration, Atrophic scars, Pancytopenia, Leukocytosi...	ORPHA:542643
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Narrow mouth, Genu valgum, Intervertebral space narrowing, Radial head subluxation,...	OMIM:614078
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular d...	OMIM:143095
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cry...	ORPHA:534
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Lumbar hyperlordosis, Hammertoe, Limited knee flexion, Elevated circulating creatine kinase conce...	ORPHA:435387
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Narrow mouth, Attention deficit hyperactivity disorder, Hip dysplasia, Kyphosis	OMIM:620007
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Open bite, Short neck, Cachexia, High palate, Short foot, Decreased t...	ORPHA:85293
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613818
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Cryptorchidism, Thoracolumbar scoliosis, Everted lower lip verm...	OMIM:620450
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Clark-Baraitser syndrome	Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Genu valgu...	OMIM:300602
Pfeiffer Syndrome	Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Fin...	ORPHA:710
Marsili Syndrome	Lacrimation abnormality	OMIM:147430
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Langer Mesomelic Dysplasia	Increased carrying angle, Radial bowing, Short tibia, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Small hand, Sandal gap, Thick lower lip vermilion, Hypogonadism, Decreased testicula...	OMIM:300354
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Small hand, Clinodactyly, Oligozoospermia, Short foot, Short metacarpal, Osteopenia, Cone-shaped ...	OMIM:614813
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Nail dysplasia	OMIM:212360
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Cryptorchidis...	OMIM:611209
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Oligodontia, Anodontia, Everted lower lip vermilion, Large hands, Scoliosis, Kyphosis, T...	ORPHA:276630
Hydroa Vacciniforme	Epiphora	ORPHA:330058
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Short Syndrome	Clinodactyly, Insulin-resistant diabetes mellitus, Megalocornea, Hyperglycemia, Micrognathia, Red...	OMIM:269880
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Mietens Syndrome	Wide nasal bridge, Cataract, Microcornea, Elbow dislocation, Short nose, Avascular necrosis of th...	ORPHA:2557
Steel Syndrome	Wide nasal bridge, Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, C...	OMIM:615155
Gapo Syndrome	Keratoconus, Abnormal pelvic girdle bone morphology, Delayed eruption of teeth, Long philtrum, Ab...	ORPHA:2067
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the dentition, Head-banging, Everted upper lip vermilion, Velop...	OMIM:182290
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Reduced leukocyte arylsulfatase B activity, Hypoplasia of the odontoid proc...	OMIM:253200
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Long philtrum, Micrognathia, Cryptorchidism, Astigmatism, Soli...	ORPHA:261250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:615156
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Type I diabetes mellitus, Downturned corners of mouth, Failure to thrive, Pancytopenia,...	ORPHA:251009
49,Xxxxy Syndrome	Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi...	ORPHA:96264
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:613723
Myasthenic Syndrome, Congenital, 5	Dysphagia, Scoliosis, Hyperlordosis	OMIM:603034
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility,...	ORPHA:1875
Williams Syndrome	Synostosis of joints, Carious teeth, Megalocornea, Open bite, Micrognathia, Type II diabetes mell...	ORPHA:904
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Generalized lipodystrophy, H...	OMIM:608612
Myopathy, Centronuclear, 2	Talipes equinovarus, Hyperlordosis, High palate, Scoliosis, Kyphosis, Flexion contracture	OMIM:255200
Omodysplasia 2	Limited elbow flexion, Micrognathia, Cryptorchidism, Dislocated radial head, Hypospadias, Hypopla...	OMIM:164745
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyse...	OMIM:620269
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Wide nasal bridge, Retrognathia, Short toe, Failure to thrive, Microcytic anemia, HbH hemoglobin,...	ORPHA:98791
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Cyanosis, Decreased circulating nicotinamide adenine dinucleotid...	OMIM:250800
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
3Mc Syndrome	Caudal appendage, Downturned corners of mouth, Bilateral cryptorchidism, Supernumerary nipple, Um...	ORPHA:293843
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Narrow mouth, Cryptorchidism, Congenital diaphragmatic hernia, Hernia, ...	ORPHA:94065
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Insulin-resistant diabetes mellitus, Abnormal tongue...	ORPHA:2457
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Limited elbow extension, Cryptorchidism, Inguinal hernia...	OMIM:180870
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Limite...	OMIM:183900
Myopathy, Centronuclear, 1	Mildly elevated creatine kinase, Flexion contracture, Hyperlordosis	OMIM:160150
Marinesco-Sjögren Syndrome	Cataract, Hypogonadism, Abnormal circulating lactate dehydrogenase concentration, Abnormal circul...	ORPHA:559
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Weill-Marchesani Syndrome 2	Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Lens luxation, Cat...	OMIM:608328
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen...	ORPHA:353
Dominant Beta-Thalassemia	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hypopituitarism, ...	ORPHA:231226
Hypomelanosis Of Ito	Iris coloboma, Cataract, Clinodactyly, Radial deviation of finger, Thick lower lip vermilion, Han...	OMIM:300337
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Broad-based gait, Short femoral neck, Short humerus, Talipes equinovarus, Na...	OMIM:616716
Wilson Disease	Kayser-Fleischer ring, Acute hepatic failure, Hepatic steatosis, Increased body weight, Weight lo...	ORPHA:905
Cutis Laxa, Autosomal Recessive, Type Iiia	Corneal arcus, Hypoornithinemia, Congenital hip dislocation, Cataract, Failure to thrive, Umbilic...	OMIM:219150
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, ...	ORPHA:436174
Achondrogenesis Type 2	Hypoplastic ilia, Cataract, Unossified sacrum, Micromelia, Absent vertebral body mineralization, ...	ORPHA:93296
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Increased adipose tissue aro...	OMIM:248370
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Clinodactyly, Hypogonadism, Elbow flexion contracture, ...	OMIM:616200
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Posterior subcapsular cataract, Toe syndactyly, Umbilical hernia, Decreased response to growth ho...	OMIM:619234
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Decreased beta-galactosidase activity, Flare...	OMIM:230650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Hyperlordosis, Back pain	OMIM:618129
Nail-Patella Syndrome	Keratoconus, Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral me...	OMIM:161200
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Micrognathia, Type...	ORPHA:3191
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Knee flexion contracture, Elevated circulating creatine kinase concentratio...	ORPHA:353327
Harrod Syndrome	Cataract, Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnorma...	ORPHA:2115
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Proximal femoral epiphysiolysis, Failure...	OMIM:260400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Abnormal morphology of female internal genitalia, Vertebral segmentation defec...	ORPHA:1797
Myasthenic Syndrome, Congenital, 25, Presynaptic	Joint hypermobility, Dysphagia, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Reduce...	OMIM:309000
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Abnormality of the nail, Generalized hirsutism	ORPHA:317
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Elevated circulating alkaline pho...	OMIM:277440
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Fucosidosis	Hernia, Beaking of vertebral bodies, Absent/hypoplastic coccyx, Hepatomegaly, Anterior beaking of...	OMIM:230000
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Subcapsu...	OMIM:203800
Bruck Syndrome 1	Platyspondyly, Abnormality of the dentition, Ankle flexion contracture, Vertebral wedging, Pteryg...	OMIM:259450
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Diamond-Blackfan Anemia 6	Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Short thumb, Failu...	OMIM:612561
Myasthenic Syndrome, Congenital, 16	High palate, Hyperlordosis	OMIM:614198
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor...	ORPHA:3098
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Mandibular prognathia, Shallow acetabular fossae, Limitation...	OMIM:252600
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Arthrogryposis, Distal, Type 5	Keratoconus, Clinodactyly, Astigmatism, Arachnodactyly, Limited wrist extension, Distal arthrogry...	OMIM:108145
Ullrich Congenital Muscular Dystrophy 1A	Hip dislocation, Kyphosis, Failure to thrive, Flexion contracture, Slender build, Wrist hypermobi...	OMIM:254090
Flynn-Aird Syndrome	Cataract, Carious teeth, Joint stiffness, Type II diabetes mellitus, Bone cyst, Cachexia, Scolios...	ORPHA:2047
Linear Verrucous Nevus Syndrome	Genu recurvatum, Iris coloboma, Cataract, Toe syndactyly, Abnormal cornea morphology, Reduced bon...	ORPHA:2611
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Short toe, Short finger, Hypogonadism, Hy...	OMIM:103580
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Increased circulating lactate dehydrogenase concentration, Failure to thrive, Sand...	OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Talipes equinovarus, Flexion contracture, Hyperlordosis, Elevated circulating creatine kinase con...	OMIM:611588
Al-Gazali Syndrome	Broad distal phalanx of finger, Failure to thrive, Micrognathia, Bowed humerus, Wrist flexion con...	OMIM:609465
Autosomal Recessive Stickler Syndrome	Platyspondyly, Epiphyseal dysplasia, Cataract, Abnormal epiphysis morphology, Micrognathia, Genu ...	ORPHA:250984
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Failure to thrive, Decreased liver fu...	OMIM:230400
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ...	OMIM:250250
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Congenital Ichthyosiform Erythroderma	Alopecia, Hypohidrosis, Abnormality of the nail	ORPHA:79394
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Dental crowding, Synostosis of carpal bones, Micromelia, Abnor...	ORPHA:3121
Beta-Thalassemia Major	Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hypopituitarism, ...	ORPHA:231214
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Hypospadias, Joint stiffness, Arachnodactyly, Abnormal testis morph...	ORPHA:1548
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Vertebral fusion, Hyperlordosis, Achilles ten...	OMIM:607155
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Bea...	OMIM:618961
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Iris coloboma, Cataract, Microcornea, Subm...	ORPHA:2712
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal ga...	OMIM:617102
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal hip bone morphology, Abnormal p...	ORPHA:3068
Pseudopseudohypoparathyroidism	Cataract, Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Short neck, Enamel hypopl...	OMIM:612463
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Sh...	ORPHA:2429
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Protruding tongue, Cryptorchidism, Absent frontal sinuses, Talipes equinovarus, Hyp...	OMIM:301040
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Delayed eruption of teeth, Hypoglycemia, Clinoda...	ORPHA:73272
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta...	ORPHA:955
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Open mouth, Cryptorchidism, Overfriendliness, Short neck, High palate, Restlessness...	ORPHA:369891
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon...	OMIM:601559
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Small hand, Type II diabetes mellitus, Cryptorchidism, Increased body weight, Poly...	ORPHA:398069
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Cataract, Abnormal epiphysis ...	ORPHA:1458
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Ankle flexion contracture, Scoliosis, Hyperlordosis, Joint hypermobility	OMIM:617760
Polycythemia Vera	Gingival bleeding, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension,...	ORPHA:729
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Cataract, Conical tooth, Dental malocclusion, Sandal gap, Clinodactyly, Broad ...	OMIM:618727
Craniometadiaphyseal Dysplasia	Abnormally large globe, Carious teeth, Natal tooth, Flared metaphysis, Broad long bones, Absent p...	OMIM:269300
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Failure to thrive, Giant platelets, Upper lim...	OMIM:169400
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Abnormal form of the vertebral bodies, Finger syndactyly,...	ORPHA:794
Cohen Syndrome	Finger syndactyly, Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Arachnodactyly, Neutrop...	ORPHA:193
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo...	OMIM:100800
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Short distal phalanx of finger, Carious teeth, Mandibular osteomyel...	ORPHA:53
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Seckel Syndrome 1	Ivory epiphyses, Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, Dislocated rad...	OMIM:210600
Bethlem Muscular Dystrophy	Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca...	ORPHA:610
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Oligozoospermia, Male infertility	ORPHA:3000
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Short neck, Hi...	OMIM:619950
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Cryptorchidism, Patellar aplasia, Calcinosis, Neutropenia, Leukem...	ORPHA:221008
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Autosomal Recessive Centronuclear Myopathy	Bifid uvula, Retrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Hyperlordosis, Lon...	ORPHA:169186
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Anemia, High palate, Scoliosis, Kyphosis, Short nose	ORPHA:2598
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Eleva...	OMIM:619040
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovar...	ORPHA:2215
Focal Facial Dermal Dysplasia Type Iii	Lacrimation abnormality	ORPHA:1807
Diamond-Blackfan Anemia 1	Delayed cranial suture closure, Persistence of hemoglobin F, Micrognathia, Short neck, Neutropeni...	OMIM:105650
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Mucopolysaccharidosis, Type X	Wide nasal bridge, Platyspondyly, Diastema, Long philtrum, Open bite, Widely spaced teeth, Irregu...	OMIM:619698
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Cataract, Microspherop...	OMIM:277600
Sialidosis Type 2	Umbilical hernia, Splenomegaly, Inguinal hernia, Corneal opacity, Hepatomegaly, Osteoporosis, Fle...	ORPHA:87876
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Limbal Stem Cell Deficiency	Lacrimation abnormality, Epiphora	ORPHA:171673
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Scoliosis, Kyphosis	OMIM:617087
Hurler Syndrome	Hypoplasia of the odontoid process, Hepatosplenomegaly, Hernia, Short neck, Diaphyseal undertubul...	OMIM:607014
Stickler Syndrome, Type Iv	Platyspondyly, Epiphyseal dysplasia, Cataract, Short femoral neck, Hypoplastic iliac wing, Irregu...	OMIM:614134
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Hypohidrosis, Nail dystrophy	ORPHA:100976
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Metaphyseal irregularity, Rheumatoid arthritis, Short iliac bones, Lymphopenia, Lu...	OMIM:607944
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Hypotriglyceridemia, Increased susceptibility to fractures, Decreased LDL cholester...	ORPHA:404454
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, Short palm...	ORPHA:261330
Blepharonasofacial Malformation Syndrome	Lacrimation abnormality	ORPHA:1252
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Cryptorchidism, Abnormal palate morphology, Cachexi...	ORPHA:2471
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Cryptorchidism, Patellar aplasia, Aplasia/hypoplasia involving bo...	ORPHA:221016
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Delayed eruption of teeth, Hypogonadism, Hypocalcemic tetany, Obesit...	OMIM:612462
Johnson Neuroectodermal Syndrome	Alopecia, Hypogonadism, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair	ORPHA:2316
Sandhoff Disease	Hepatomegaly, Splenomegaly, Kyphosis, Failure to thrive	ORPHA:796
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Thick lower lip vermilion, Joint stiffness, Genu valgum,...	ORPHA:583
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body...	OMIM:271640
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic...	ORPHA:848
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Stickler Syndrome, Type I	Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora...	OMIM:108300
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena...	ORPHA:2930
Werner Syndrome	Cataract, Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Reduced bo...	OMIM:277700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, Joint stiffness, Bicoronal ...	OMIM:619184
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Kyphosis, Aplasia/hypoplasia of the uterus, Non-obstructive az...	ORPHA:2232
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Open mouth, Cryptorchidism, Overfriendliness, Arachnodactyly, Everted lower lip ve...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Open mouth, Cryptorchidism, Overfriendliness, Arachnodactyly, Everted lower lip ve...	ORPHA:363958
Cockayne Syndrome Type 1	Abnormality of the dentition, Male hypogonadism, Cataract, Elevated circulating hepatic transamin...	ORPHA:90321
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Microcornea, Increased HbA2 hemoglobin, Increased bone mineral density,...	OMIM:616943
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short nec...	OMIM:305450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Crypt...	ORPHA:3082
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Increased body weight, Cirrhosi...	ORPHA:264580
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Frontorhiny	Iris coloboma, Hypoplasia of the maxilla, Cataract, Finger clinodactyly, Camptodactyly of finger,...	ORPHA:391474
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba...	OMIM:169550
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Megalocornea, Subluxation of the small joints of the hand, Microgn...	ORPHA:536471
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, Large hands, High palate, Sho...	ORPHA:192
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Dysphagia, Thrombocytopenia, Short long bone, Camptodactyly, Scoliosis	OMIM:619751
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, High palate, Motor stereotypy, Short nose, Eruption failure, Attention deficit hype...	ORPHA:476126
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic p...	OMIM:265000
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ...	OMIM:612813
Baralle-Macken Syndrome	High, narrow palate, Cataract, Obesity, Kyphosis, Tapered finger	OMIM:619255
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Internally rotated shoulders, Cholestasis, Hepatosplenomegaly...	OMIM:619503
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Wide nasal bridge, Broad middle phalanx of finger, Reduced natural killer cell count, Short dista...	ORPHA:221139
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Kyphosis, Downturned corners of mouth, Hypogonadism, Genu valgum, Short neck, Thin...	ORPHA:2983
Cockayne Syndrome Type 2	Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ...	ORPHA:90322
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
47,Xyy Syndrome	Varicocele, Finger clinodactyly, Azoospermia, Malar flattening, Cryptorchidism, Impulsivity, Atte...	ORPHA:8
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Clinodactyly, Cryptorchidism, Short neck, High palate, Scolio...	ORPHA:178148
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Stickler Syndrome Type 1	Platyspondyly, Cataract, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum,...	ORPHA:90653
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Iris c...	ORPHA:3378
Lacrimal Duct Defect	Epiphora	OMIM:149700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, High palate, Motor stereotypy, Dysphagia, Short nose, Self-injurious behavior, Olig...	OMIM:617061
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Broad lon...	ORPHA:163654
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint subluxation, Atrophic scars, Joint hypermobility, Wormian bones, Talipes e...	OMIM:617821
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short neck, Limb undergrowth, Brachydactyly, Short long bone...	ORPHA:221054
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Short metacarpal, Ovoid vertebral bo...	ORPHA:85167
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Amenorrhea	OMIM:600705
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Beckwith-Wiedemann Syndrome	Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce...	ORPHA:116
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Codas Syndrome	Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Lumbar scoliosis, Metaphyseal dy...	OMIM:600373
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Recurrent fract...	OMIM:239000
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Cleft soft palate, Micrognathia, Genu valgum, Metaphyseal dysplasia, A...	ORPHA:93316
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Cataract, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Developmental cat...	OMIM:610756
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Dyssegmental Dysplasia, Silverman-Handmaker Type	Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Cryptorchidism, Talip...	ORPHA:1865
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Megalocornea, Lumbar hyperlordosis, Elevated circulating c...	ORPHA:370959
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Frequent temper tantrums, Inguinal hernia, Motor stereotypy, Attention defici...	OMIM:620141
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Koolen-De Vries Syndrome	Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Hip dislocation, Cataract, ...	ORPHA:96169
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Non-m...	ORPHA:2710
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Small nail, Abnormal hair morphology, Hypohidrosis, Thin nail, Anhidrosis	OMIM:242100
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Cataract, Abnormal epiphysis morphology, Limitation of ...	ORPHA:177
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr...	OMIM:259440
Tempi Syndrome	Increased hematocrit, Polycythemia, Hypoxemia	ORPHA:284227
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C...	OMIM:112350
Emanuel Syndrome	Broad jaw, Congenital hip dislocation, Dental crowding, Failure to thrive, Long philtrum, Sacral ...	OMIM:609029
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Keratitis, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion ...	OMIM:272430
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Hyperhidrosis, Sp...	OMIM:614594
Alexander Disease	Precocious puberty, Osteopenia, Self-injurious behavior, Failure to thrive, Short neck, Hyperlord...	ORPHA:58
Trisomy 20P	Finger syndactyly, Micrognathia, Cryptorchidism, Hernia, Short neck, Everted lower lip vermilion,...	ORPHA:261318
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Dysmenorrhea, Polycystic ovaries, Increased body weight, Cirrhosis, Hepat...	ORPHA:79240
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process...	OMIM:607326
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Dysplastic sacrum, Wide distal ...	OMIM:613320
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Scoliosis, Elevated circulating creatine kinase concentration, Spinal rigidity	ORPHA:86812
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Talipes equinovaru...	OMIM:253220
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia	OMIM:203550
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Cryptorchidism, Attention deficit hyperactivity disorder, Shawl scrotu...	OMIM:615433
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Short...	ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613157
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Talipes equinovarus, Hyperlordosis, Metatarsus adductus, Hip dysplasia,...	OMIM:181405
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinova...	OMIM:108720
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Calcinosis, Neutropenia, Leuke...	ORPHA:2909
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Cataract, Broad femoral neck, Retrognathia, Failure to thrive, Microgn...	OMIM:617164
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum,...	ORPHA:666
Hemochromatosis, Type 1	Impotence, Increased circulating iron concentration, Elevated circulating hepatic transaminase co...	OMIM:235200
Myopathy, Scapulohumeroperoneal	Increased connective tissue, Scoliosis, Hyperlordosis, Achilles tendon contracture	OMIM:616852
Crisponi Syndrome	Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth,...	ORPHA:1545
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Warburg Micro Syndrome 3	Small scrotum, Cataract, Microcornea, Downturned corners of mouth, Decreased testicular size, Mic...	OMIM:614222
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Clitoral hypertrophy, Joint contracture of the hand, Failure to thrive, Micrognathia, O...	OMIM:214110
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity, Split hand, Premature ovarian insufficiency, Scoliosis, Kyphosis	OMIM:618124
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Cleft upper lip...	OMIM:211350
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Dental crowding, Failure to thrive, Elbow ...	ORPHA:2020
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness, Scoliosis, Kyphosis, Corneal erosion	ORPHA:816
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase...	OMIM:263400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downt...	ORPHA:404440
Koolen-De Vries Syndrome	Open mouth, Cryptorchidism, Everted lower lip vermilion, High palate, Hip dislocation, Slender fi...	OMIM:610443
H Syndrome	Corneal arcus, Histiocytosis, Cleft upper lip, Osteolysis, Hypogonadism, Decreased testicular siz...	ORPHA:168569
16P12.1P12.3 Triplication Syndrome	Short nose, High, narrow palate, Short 5th finger, Prominent fingertip pads, Decreased response t...	ORPHA:485405
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Increased ...	OMIM:608940
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Dyskeratosis Congenita, Autosomal Recessive 6	Epiphora, Ataxia	OMIM:616353
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Fibrochondrogenesis 1	Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Megalocornea, ...	OMIM:228520
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Bardet-Biedl Syndrome 9	Irregular menstruation, Cataract, Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity,...	OMIM:615986
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Hypogonadism, Elevated circula...	ORPHA:85450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Elevated circulating creatine kinase concentrat...	OMIM:310200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Flexion contracture, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:253700
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture...	ORPHA:2771
Wiedemann-Steiner Syndrome	Small hand, Long hallux, Contracture of the distal interphalangeal joint of the fingers, Microgna...	OMIM:605130
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Cryptorchidism, ...	ORPHA:2658
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Micrognathia, Abnormal thoracic spine morphology, Abn...	ORPHA:46059
Alacrima, Congenital, Autosomal Dominant	Alacrima, Decreased lacrimation	OMIM:103420
19P13.3 Microduplication Syndrome	Precocious puberty, Self-injurious behavior, Hip subluxation, Clinodactyly, Micrognathia, Narrow ...	ORPHA:447980
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy	OMIM:242300
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Punctate vertebr...	OMIM:302960
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build...	ORPHA:364028
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
Mirage Syndrome	Rocker bottom foot, Hyperkalemia, Microphallus, Hypoglycemia, Radial club hand, Decreased testicu...	OMIM:617053
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Rhizomelia, Short tibia, Hypoglycemia, Sandal gap, Failure to thrive, Butterfly ve...	OMIM:607143
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymp...	OMIM:617591
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated ci...	OMIM:615356
Stickler Syndrome	Open bite, Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Failure to thrive	OMIM:618237
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Lens luxation, Ectopia lentis, Micromelia, Limitation of joint mob...	OMIM:224400
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, I...	ORPHA:3218
Werner Syndrome	Insulin resistance, Cataract, Small hand, Chondrocalcinosis, Rocker bottom foot, Neoplasm of the ...	ORPHA:902
Lopes-Maciel-Rodan Syndrome	Small hand, Bruxism, Ankle clonus, Motor stereotypy, Dysphagia, Short foot, Scoliosis, Kyphosis, ...	OMIM:617435
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs ...	OMIM:259420
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, S...	ORPHA:79345
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Short thumb, Macrocytic anemia, Triphalangeal thum...	OMIM:612562
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Sandal gap, Supernumerary nipple, Camptodactyly of finger, Leukemia,...	OMIM:619951
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Ante...	ORPHA:35173
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Hypoglycemia, Failure to thrive, Kyphoscoliosis, Lim...	OMIM:618005
Myotonic Dystrophy 2	Posterior subcapsular cataract, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, E...	OMIM:602668
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing...	ORPHA:464738
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Hand clenching, Arthrogryposis multiplex congenita, ...	OMIM:618291
Fragile X Syndrome	Mandibular prognathia, Metacarpophalangeal joint hyperextensibility, Recurrent hand flapping, Joi...	OMIM:300624
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Megalocornea, Micrognathia, Anterior concavity of thoracic verteb...	OMIM:249420
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis	OMIM:618234
Primrose Syndrome	Genu valgum, Narrow mouth, Cryptorchidism, Hip contracture, Torus palatinus, Tics, High palate, R...	OMIM:259050
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Spastic Paraplegia 46, Autosomal Recessive	Cataract, Ankle clonus, Infertility, Scoliosis, Kyphosis	OMIM:614409
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Malar flattening, Cryptorchidism, Kyphoscoliosis, Thin upper lip verm...	ORPHA:412035
Cyanosis, Transient Neonatal	Cyanosis, Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormality of the dentition, Small hand, Toe syndactyly, Downturned cor...	ORPHA:238750
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Bcard Syndrome	Platyspondyly, Abnormality of the dentition, Cataract, Osteopenia, Downturned corners of mouth, C...	OMIM:612394
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Wide nasal bridge, Cataract, Rhizomelia, Short iliac bones, Supernumerary nipple, Elevated circul...	OMIM:614376
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Limitation of joint mobility, Micrognathia, Cryptorchidism, Congen...	ORPHA:363528
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Genu valgum, Glucose intolerance, Spleno...	OMIM:615630
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Sandal gap, Failure to thrive, Clino...	OMIM:617602
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Fucosidosis	Abnormality of the dentition, Failure to thrive, Abnormality of the gallbladder, Hepatomegaly, Hy...	ORPHA:349
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Delayed eruption of teeth, ...	ORPHA:94089
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Polyphagia, Short neck, Calcinosis, Short metacarpal, Cataract, Broad distal p...	ORPHA:79444
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Anhidrosis, Sparse hair	ORPHA:659
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Cryptorchidism, Decreased body weight, Talipes equinovarus, Large hands, High palat...	OMIM:300534
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental enamel morphology, Macr...	ORPHA:2916
Dyskeratosis Congenita	Carious teeth, Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Catar...	ORPHA:1775
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Cryptorc...	OMIM:133540
Congenital Myopathy 22A, Classic	Wide nasal bridge, Dental crowding, Mildly elevated creatine kinase, Micrognathia, Open mouth, Kn...	OMIM:620351
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Advanced ossification of carpal bones, Umbilical hernia, Adv...	OMIM:269250
Functioning Gonadotropic Adenoma	Osteopenia, Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone ...	ORPHA:91348
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:1354
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism...	ORPHA:818
Bleeding Disorder, Platelet-Type, 21	Alopecia, Menorrhagia	OMIM:617443
Sunct Syndrome	Increased tear production, Epiphora	ORPHA:57145
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Narrow mouth, Everted lower lip vermilion, Patellar dislocation, High palat...	ORPHA:261349
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Small hand, Failure to thrive, Hypogonadism, Cryptorchidism, Obsessive-...	ORPHA:500055
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Congenital diaphragmatic hernia, Overf...	OMIM:616364
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair	ORPHA:1839
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes...	OMIM:609128
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemi...	OMIM:612563
Mend Syndrome	Asymmetry of the mouth, Cataract, Broad hallux, Failure to thrive, Sacral dimple, Elevated 8(9)-c...	ORPHA:401973
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased circulating iron concentration, Elevated circulating hepatic transam...	ORPHA:98870
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Hypospadias, Mandibular prognathia, Epis...	ORPHA:2588
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Elevated circulating hepatic transaminase concentration, Micrognathia, Cryptorchidism, ...	OMIM:608093
Rothmund-Thomson Syndrome, Type 2	Small hand, Micrognathia, Cryptorchidism, Talipes equinovarus, High palate, Short foot, Short nos...	OMIM:268400
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Microretrognathia, Kyphosis, Downturned corners of mouth, Long philtrum, Radial ...	OMIM:301041
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Cryptorc...	OMIM:216400
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Cataract, Micromelia, Pterygium, Micrognathia, Narrow mouth, Ma...	OMIM:224410
Brittle Cornea Syndrome 1	Congenital hip dislocation, Dentinogenesis imperfecta, Keratoconus, Abnormal cornea morphology, A...	OMIM:229200
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi...	OMIM:309350
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Alopecia	OMIM:612079
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern	ORPHA:1867
Distal Triplication 15Q	Retrognathia, Large for gestational age, Micrognathia, Corneal dystrophy, Arachnodactyly, Hernia,...	ORPHA:314588
Autoimmune Polyendocrinopathy Type 2	Hypogonadism, Alopecia	ORPHA:3143
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Osteopenia, Abnormal temper tantrums, Dental malocclusion, Clinodactyly of the...	ORPHA:73223
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op...	ORPHA:1507
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Lumbar hyperlordosis, Hepatosplenomegaly, Leukopenia, Joint stiffness, Hernia, L...	ORPHA:505248
Triploidy	Hypospadias, Iris coloboma, Cataract, Finger syndactyly, Abnormality of the gallbladder, Microgna...	ORPHA:3376
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Micrognathia, Increased femoral anteversion, Cryptorchidism, Self-mutilation, De...	OMIM:619005
Oculodentodigital Dysplasia	Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Microphthalmia, Ataxia, High pa...	OMIM:164200
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Clinodactyly, Glandular hypospadias, Breast hypo...	ORPHA:1439
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Srd5A3-Cdg	Cataract, Elevated circulating hepatic transaminase concentration, Decreased response to growth h...	ORPHA:324737
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Cholestasis, Osteomalacia, Humerus varus, G...	ORPHA:198
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Monosomy 9Q22.3	Cataract, Delayed eruption of teeth, Long philtrum, Abnormality of the vertebral column, Umbilica...	ORPHA:77301
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Microg...	OMIM:248700
Mevalonic Aciduria	Cataract, Nuclear cataract, Elevated circulating hepatic transaminase concentration, Increased ci...	OMIM:610377
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoi...	OMIM:151210
Sialidosis Type 1	Wide nasal bridge, Cataract, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Sp...	ORPHA:812
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, ...	OMIM:614866
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Increased LDL cholesterol concentration, H...	ORPHA:247598
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Open mouth, Protruding tongue, Decreased body weight,...	ORPHA:258
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital diaphragmat...	ORPHA:958
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Kyphosis	OMIM:609384
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Abno...	ORPHA:2769
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Umbilical hernia, Joint hypermobility, Arachnodactyly, Adducted thumb, Shoul...	ORPHA:2181
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Polyphagia, Short neck, Calcinosis, Short metacarpal, Cataract, Broad distal p...	ORPHA:79443
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Hepatomegaly, Osteopenia, S...	OMIM:620076
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib...	ORPHA:52901
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Irregular dentition, Cryptorchidism...	OMIM:602535
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Megalocornea, Micrognathia, Cryptorchidism, Congenital diaphragmat...	ORPHA:280
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Facioscapulohumeral Dystrophy	Hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:269
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Iris coloboma, Cataract, Toe syndactyly, Broad thumb, Failure to thrive, Long ...	ORPHA:250989
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Decreased skull...	OMIM:263210
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Lymphopenia, Kyphoscoliosis, 2-3 toe syndactyly, Motor stereotypy, ...	ORPHA:391307
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima	OMIM:608088
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Prominent metopic ridge	ORPHA:85317
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Abnormal female external...	ORPHA:235
Chondrodysplasia Punctata 1, X-Linked Recessive	Short distal phalanx of finger, Cataract, Abnormality of the vertebral column, Hypogonadism, Epip...	OMIM:302950
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Tooth malposition, Cataract, Clinodactyly, Abnormal circulating lipid concent...	OMIM:616541
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E...	ORPHA:1106
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertility, Hepatic s...	OMIM:269700
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Azoospermia, Cryptorchidism, Hyponatremia, Hypogonadotropi...	OMIM:300200
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Gelatinous Drop-Like Corneal Dystrophy	Epiphora	ORPHA:98957
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy...	ORPHA:2309
3C Syndrome	Wide nasal bridge, High, narrow palate, Hypospadias, Iris coloboma, Finger syndactyly, Abnormal h...	ORPHA:7
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase ...	ORPHA:89936
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th ...	ORPHA:2760
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Elevated circulating creatine kinase concentration, Talipes equinovarus, Multiple lipomas, Lipody...	OMIM:151800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Tooth agenesis, Recurrent fractures, De...	OMIM:616229
De Barsy Syndrome	Congenital hip dislocation, Cataract, Osteopenia, Delayed eruption of teeth, Failure to thrive, U...	ORPHA:2962
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Lumbar hyperlordosis, Joint hypermobility, Short neck, Brachydactyly, Ma...	ORPHA:171866
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Renpenning Syndrome	Thin eyebrow, Alopecia, Abnormal hairshaft morphology	ORPHA:3242
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ...	OMIM:618150
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Hepatic steatosis, Short ...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Hepatic steatosis, Short ...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Hepatic steatosis, Short ...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Hepatic steatosis, Short ...	ORPHA:881
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Tongue atrophy, Hyperlordosis	OMIM:620285
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Craniolenticulosutural Dysplasia	Carious teeth, Cryptorchidism, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wi...	OMIM:607812
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume...	OMIM:620044
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Genu valgum, Cryptorchidism, Hip contracture, Short neck, Posterior embryot...	OMIM:619194
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Microcytic anemia, Flexion contracture of finger, Elevated...	OMIM:256040
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, Thoracic kyphosco...	OMIM:618371
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Radial bowing, Slender long bone, Femoral b...	OMIM:610915
Stiff-Person Syndrome	Anemia, Lumbar hyperlordosis, Diabetes mellitus, Hyperhidrosis	OMIM:184850
Paroxysmal Hemicrania	Epiphora	ORPHA:157835
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis	ORPHA:525
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Slender build, Narrow mouth, Cryptorc...	ORPHA:3455
Carey-Fineman-Ziter Syndrome 1	Spinal rigidity, Cataract, Microglossia, Retrognathia, Failure to thrive, Flexion contracture, Mi...	OMIM:254940
Hurler-Scheie Syndrome	Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalangeal joint of the...	OMIM:607015
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormality of the dentition, Abnormality of the male genitalia, Thick l...	ORPHA:847
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
21Q22.11Q22.12 Microdeletion Syndrome	Clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Self-injurious behavior, Downtu...	ORPHA:261323
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Short neck, Short nose, Syndactyly, Clef...	OMIM:616894
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia	OMIM:215100
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Abnormal tongue morphology, Pheochromocytoma, Hypercalcemia, Cervical...	ORPHA:653
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Periodontitis, Xanthelasma, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Hep...	ORPHA:79259
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia, Corneal opacity,...	ORPHA:31150
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Genitopalatocardiac Syndrome	Wide nasal bridge, Kyphosis, Downturned corners of mouth, Abnormality of the gallbladder, Microgn...	ORPHA:2075
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Atypical Rett Syndrome	Restrictive behavior, Small hand, Bruxism, Inappropriate laughter, Stereotypical hand wringing, T...	ORPHA:3095
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Retrognathia, Persistence of hemoglobin F, Micrognathia, Recurrent hand ...	OMIM:617101
Waardenburg Syndrome Type 1	Lacrimation abnormality	ORPHA:894
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclusion, Slender long b...	OMIM:616202
Micro Syndrome	Wide nasal bridge, Cataract, Microcornea, Kyphosis, Joint stiffness, Micrognathia, Cryptorchidism...	ORPHA:2510
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Micrognathia, Femoral bowing, ...	ORPHA:140
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Increased circulating cortisol level, Primary hypercortisolism, Ovarian cys...	OMIM:610475
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism...	ORPHA:3103
Myotonia Permanens	Dysphagia, Limitation of joint mobility, Hyperlordosis	ORPHA:99735
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Fail...	OMIM:222748
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hypermobility	ORPHA:319199
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Hypoplastic scapulae, Micromelia, Orofacial cleft, Femoral retroversion, Dysphagia, Mac...	ORPHA:79107
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Abnormal circulatin...	ORPHA:365
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Decreased circ...	ORPHA:90793
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Clitoral hypertrophy, Microcornea, Retrognathia, Furrowed tongue, Tented upper lip verm...	OMIM:616449
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Cryptorchidism, Congenital diaphragmatic hernia, A...	ORPHA:2911
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi...	OMIM:201750
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Cockayne Syndrome	Lentiglobus, Carious teeth, Cryptorchidism, Reduced subcutaneous adipose tissue, Delayed eruption...	ORPHA:191
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age, Cyanosis, Lip discoloration	ORPHA:621
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Oste...	OMIM:259710
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami	OMIM:141300
Autosomal Recessive Spondylocostal Dysostosis	Scoliosis, Abnormal form of the vertebral bodies, Long philtrum, Abnormal morphology of female in...	ORPHA:2311
Bloom Syndrome	Insulin resistance, Retrognathia, Azoospermia, Micrognathia, Acute lymphoblastic leukemia, Malar ...	ORPHA:125
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Abnormality of the dentition, Short distal phalanx of finger, Cataract, Limit...	ORPHA:90153
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Osteolys...	ORPHA:3042
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Proximal femoral epiphysiolysis, Thick lower lip vermilion, Failure to thriv...	OMIM:162300
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnor...	ORPHA:2655
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Irregular menstruation, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial b...	OMIM:616482
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Talipes equinovar...	OMIM:619148
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Micrognathia, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Short...	OMIM:194190
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Scoliosis, Dysphagia, Kyphosis	OMIM:128100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Elevated circulating hepatic transaminase concentration, Dental crowding, Ectopia lenti...	ORPHA:394
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Cataract, Dental crowding, Failure to thrive, Joint hypermobility, ...	ORPHA:65286
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hyperinsulinemia, Hepatosplenomega...	ORPHA:64
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Microretrognathia, Cone-shape...	OMIM:617253
Trisomy 9P	Dental crowding, Downturned corners of mouth, Kyphosis, Impacted tooth, Abnormal pupil morphology...	ORPHA:236
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Persistence...	OMIM:265800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Decreased mitochondrial number, Elevated circulating creatine kinase concentrati...	ORPHA:352447
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hypogonadism, Delayed menarche, Oligomenorrhea, Infertility	ORPHA:412057
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Abnormal dental enamel morphology...	ORPHA:1005
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco...	OMIM:616507
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	OMIM:167730
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurren...	OMIM:618849
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Talipes equin...	ORPHA:3310
Dystonia-Deafness Syndrome 1	Cataract, Hypoplastic scapulae, Cleft upper lip, Pseudobulbar paralysis, Kyphoscoliosis, Femoral ...	OMIM:607371
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Platyspondyly, Sclerotic vertebral body, Erlenmeyer flask deformity of the femurs, Craniofacial o...	OMIM:618476
Acrocraniofacial Dysostosis	Lacrimation abnormality	ORPHA:949
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Hip dislocation, Downturned corners of mouth, Obesity, Scoliosis, Kyphosis	ORPHA:464282
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchidism, Reduced subcutaneous adipo...	OMIM:264090
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Obesity, Glucose intolerance, Biconcave verteb...	OMIM:219090
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Coronal...	OMIM:616294
Kleefstra Syndrome 2	Self-injurious behavior, Bifid uvula, Everted lower lip vermilion, Scoliosis, Kyphosis	OMIM:617768
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Micrognathia, Malar flattening, Hypoplastic...	OMIM:614524
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Distal 16P11.2 Microdeletion Syndrome	Obesity, Narrow mouth, Hyperuricemia, Arachnodactyly, Attention deficit hyperactivity disorder, K...	ORPHA:261222
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Ectopia lentis, Retrognathia, Generalized lipodystrophy, Absence of subcutan...	OMIM:616914
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia...	ORPHA:2256
Epithelial Recurrent Erosion Dystrophy	Epiphora	ORPHA:293381
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, P...	OMIM:608594
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ...	OMIM:180849
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Limitation of joint mobility, Slender build, Lumbar hyperlordosis, Large for gestational age, Mal...	ORPHA:457359
Becker Nevus Syndrome	Micromelia, Supernumerary nipple, Abnormal tibia morphology, Hypoplastic labia minora, Abnormal s...	ORPHA:64755
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Foot polydactyly, High palate, Short foot, Syndactyly, High, narrow p...	OMIM:209900
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Micrognathia, Hip contra...	OMIM:156400
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Hypoglycemia, ...	ORPHA:199299
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Mandibular prognathia, Arachnodactyly, Lens subluxation, Scoliosis, Kyphosis, Hy...	OMIM:609008
Trichotillomania	Alopecia	OMIM:613229
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal morphology of female internal genitalia, Tooth agenesis, Abno...	ORPHA:3353
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima	OMIM:300858
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, Self-mutilation, Joint hypermobility, Thin upper lip ver...	ORPHA:522077
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
3Q29 Microduplication Syndrome	Wide nasal bridge, Abnormality of the dentition, Cataract, Toe syndactyly, Sandal gap, Aniridia, ...	ORPHA:251038
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypergonadotropic hypogonadism	OMIM:620651
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Cleft soft palate, Cryptorchidism, Chordee, Osteochondrosis, Hypospadias, Posterio...	ORPHA:268261
Incontinentia Pigmenti	Finger syndactyly, Supernumerary nipple, Abnormal hand morphology, Cataract, Hypodontia, Orofacia...	ORPHA:464
Atelis Syndrome 2	Downturned corners of mouth, Diastema, Thick lower lip vermilion, Clinodactyly, Hyperinsulinemia,...	OMIM:620185
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cataract, Dental malocclus...	ORPHA:444072
Intellectual Disability-Developmental Delay-Contractures Syndrome	Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo...	ORPHA:3454
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Delayed eruption of teeth, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Gingival...	ORPHA:508542
Von Hippel-Lindau Disease	Polycythemia, Back pain, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Hyperhidrosis, ...	ORPHA:892
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos...	OMIM:615631
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Annular pancreas, Peters anomaly, Furrowed tongue, Lumbar hyperlordosis, Micrognathia,...	OMIM:616975
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Hyperbilirubinemia, Genu valgum, Hepatic steatosis, Decreased body weight, Talipes...	OMIM:619475
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Cryptorchidism, Congenital diaphragmatic hernia, Polyphagia...	ORPHA:96121
Jaberi-Elahi Syndrome	Hand clenching, Cataract, Failure to thrive, Joint stiffness, Joint hypermobility, Triangular mou...	OMIM:617988
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Short neck, Ovoid thoracolumbar vertebrae, Hepatomegaly, Restlessness, Dysp...	OMIM:252940
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Alopecia, Fine hair	ORPHA:228390
Neu-Laxova Syndrome	Osteomalacia, Micrognathia, Everted lower lip vermilion, Large hands, Cataract, Osteopenia, Ricke...	ORPHA:2671
Cowden Syndrome 1	Varicocele, Hypoplasia of the maxilla, Cataract, Subcutaneous lipoma, Goiter, Furrowed tongue, Ly...	OMIM:158350
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eru...	ORPHA:1855
Neurotrophic Keratopathy	Lacrimation abnormality	ORPHA:137596
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility, Decreased liver function, Scoliosis, Kyphosis	ORPHA:79327
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Congenital Syphilis	Cataract, Periostitis, Keratitis, Hyperplasia of the maxilla, Hypoglycemia, Extramedullary hemato...	ORPHA:499009
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Apla...	ORPHA:959
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Joint dislocation, Short femur, Absent or minimally ossified vertebral...	ORPHA:1190
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Elbow flexion contracture, Obesity, Genu valgum, Astigmatism, Hip contract...	OMIM:618493
Branchiootorenal Syndrome 1	Lacrimation abnormality, Gustatory lacrimation	OMIM:113650
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline	OMIM:614219
Shashi-Pena Syndrome	Retrognathia, Hypoglycemia, Thin upper lip vermilion, Cervical C2/C3 vertebral fusion, Short meta...	OMIM:617190
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Primary hyper...	OMIM:219080
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Elevated circulating creatine kinase concentration, Kyphosis, Hypergonadotropic ...	OMIM:615084
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugat...	OMIM:613658
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Abnormality of the dentition, Cataract, Downturned corners of mouth, Finge...	ORPHA:284160
Glass Syndrome	Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High palate, Restless...	OMIM:612313
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Alpha-Thalassemia	Cholelithiasis, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Microcytic anemia, Mala...	ORPHA:846
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited knee flexion/extension, Limited hip movement, Elevated circulating creatine kinase concen...	ORPHA:268
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hyperbilir...	OMIM:210710
Adrenoleukodystrophy	Hypogonadism, Alopecia, Impotence	OMIM:300100
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails	OMIM:261990
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Woolly hair	OMIM:619208
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Micrognathia, Orofacial cleft, Deep philtrum, Incomplete cleft of the upper li...	ORPHA:77300
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Failure to thrive, Long philtrum, Contractures of the large joints, M...	ORPHA:521426
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elbow flexion contracture, Kyphosis, Elevated circulating creatine kinase concentration	OMIM:618138
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometrocolpos, Type II diabetes m...	ORPHA:110
Mend Syndrome	Cataract, Microretrognathia, Broad hallux, Failure to thrive, Overlapping toe, Micrognathia, Over...	OMIM:300960
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Cataract, Long philtrum, Finger clinodactyly, Megalocornea, Breast hypoplasia, Nar...	OMIM:601353
Cowden Syndrome 6	Varicocele, Hypoplasia of the maxilla, Cataract, Subcutaneous lipoma, Goiter, Furrowed tongue, Mi...	OMIM:615109
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Synostosis of joints, Mesomelia, Rhizomelia, Natal tooth, Metaphyseal cupping, Lon...	ORPHA:50945
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Cowden Syndrome 5	Cataract, Hypoplasia of the maxilla, Subcutaneous lipoma, Goiter, Furrowed tongue, Micrognathia, ...	OMIM:615108
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Omodysplasia 1	Axillary pterygium, Wide nasal bridge, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee...	OMIM:258315
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Treacher-Collins Syndrome	Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal f...	ORPHA:861
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth, Slender build, Sclerosis of skull base, Genu valgum, Diaphy...	OMIM:131300
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Marfan Syndrome	Open bite, Slender build, Micrognathia, Limited elbow movement, Arachnodactyly, Cachexia, Flat co...	ORPHA:558
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia, Anemia, Glossitis, Clubb...	OMIM:175500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Secondary amenorrhea, Increased circulating cortisol level, Kyphosis, Primary hyperco...	OMIM:610489
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Anorexia, Decreased...	OMIM:611590
Opsismodysplasia	Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Long phi...	OMIM:258480
Leukocyte Adhesion Deficiency	Abnormality of the dentition, Coronal craniosynostosis, Abnormality of neutrophil physiology, Pol...	ORPHA:2968
Lateral Meningocele Syndrome	Keloids, Dental crowding, Long philtrum, Umbilical hernia, Sclerosis of skull base, Micrognathia,...	OMIM:130720
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Large for gestational age, Malar flattening, Joint hypermobility, Arachnod...	OMIM:617011
Distal Deletion 12Q	Overlapping toe, Micrognathia, Obsessive-compulsive trait, Short neck, Large hands, High, narrow ...	ORPHA:96149
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of hemoglobin F, Umbilical hernia, Persistence of primary teeth, Ast...	OMIM:619769
Gorlin Syndrome	Wide nasal bridge, Abnormal vertebral morphology, Iris coloboma, Carious teeth, Cataract, Vertebr...	ORPHA:377
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vertebral pedicles, ...	OMIM:139210
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Short neck, Bil...	ORPHA:309282
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Elsahy-Waters Syndrome	Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, C...	OMIM:211380
Carcinoid Syndrome	Epiphora	ORPHA:100093
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Diabetes mellitus, Hyperhidrosis	ORPHA:3198
Johanson-Blizzard Syndrome	Lacrimation abnormality	ORPHA:2315
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormal tibia morphology, Abnormality of the sph...	ORPHA:363700
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia universalis, Alopecia, Male hypogonadism, Nail dystrophy, Premature ovarian insufficienc...	OMIM:240300
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy, Dysplasia ...	OMIM:619127
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Genu valgum, Hepatomegaly, Dysphagia, Cataract, Avascular necrosis of ...	ORPHA:581
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scol...	ORPHA:1883
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, Decreased methion...	OMIM:277410
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ...	ORPHA:1860
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral segmentation defect, Talipes equinovarus, Short long bone, Vertebral fusion, Sacral dimple	OMIM:618845
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Aymé-Gripp Syndrome	Limitation of joint mobility, Delayed cranial suture closure, Megalocornea, Narrow mouth, Cryptor...	ORPHA:1272
Noonan Syndrome 14	High, narrow palate, Clinodactyly, Long philtrum, Lymphopenia, Limited elbow extension, Cryptorch...	OMIM:619745
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Delayed cranial suture closure, Decreased testicular size, Pers...	ORPHA:93325
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Iris coloboma, Cataract, Short distal phalanx of the thumb, Vertebral wedging,...	OMIM:109400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Long philtrum, Contractures of the large joints, Micrognathia, Tented upper li...	OMIM:617527
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Lymphopenia,...	OMIM:127550
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Cryptorchidism, Arachnodactyly, Anterior pituitary hypoplasia, Motor stereotypy, ...	ORPHA:464306
Legius Syndrome	Cataract, Acute monocytic leukemia, Male urethral meatus stenosis, Xanthelasma, Polydactyly, Mult...	ORPHA:137605
45,X/46,Xy Mixed Gonadal Dysgenesis	Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Streak ovary, Chordee, Abnormal intern...	ORPHA:1772
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Umbilical hernia, Hepa...	OMIM:309900
Herpes Simplex Virus Stromal Keratitis	Epiphora	ORPHA:137599
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Osteopetrosis, Autosomal Recessive 4	Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thromb...	OMIM:611490
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Large for gestational age, Micrognathia, Inguinal hernia, Kyphosis, Sacral dimple	OMIM:618272
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Hepatic fibrosis, Short uvula, M...	OMIM:614091
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Decreased lacrimation	OMIM:616488
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Small for gestational age, Kyphosis, Short toe, Failure to thrive, Cry...	ORPHA:464311
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Hepatic hemangioma, Epididymal cyst, Pancreatic cysts, Neoplasm o...	OMIM:193300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidism, Elevated c...	OMIM:620005
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair	OMIM:605676
1P36 Deletion Syndrome	Delayed cranial suture closure, Abnormal female external genitalia morphology, Abnormality of the...	ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Frequent temper tantrums, Narrow mouth, Joint hypermobility, Thin upper lip ve...	OMIM:618050
Monosomy 18P	Low posterior hairline, Alopecia	ORPHA:1598
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fibular hypoplas...	OMIM:613091
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Scoliosis, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism, Microdo...	OMIM:619718
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Failure to...	ORPHA:17
Alagille Syndrome 1	Cholestasis, Axenfeld anomaly, Posterior embryotoxon, Cirrhosis, Long nose, Cataract, Microcornea...	OMIM:118450
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Cryptorchidism, Humeroradial synostosis, Limited elbow movement, Ra...	OMIM:134780
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Broad thumb, Cryptorchidism, Patellar dislocation, Hypospadias, Motor...	ORPHA:353281
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male urethral meatus stenos...	OMIM:613406
Floating-Harbor Syndrome	Carious teeth, Clinodactyly, Cryptorchidism, Short neck, Broad fingertip, Long nose, Dislocated r...	ORPHA:2044
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Downturned corners of mouth, Retrognathia, Elevated circulating creatinine con...	OMIM:301110
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abno...	ORPHA:93274
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Sparse hair, Fragile nails	OMIM:242150
Duane-Radial Ray Syndrome	Cataract, Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocati...	OMIM:607323
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Scoliosis, Proximal radio-ulnar synostosis, Abnormality of the vertebral colum...	ORPHA:2062
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic trans...	OMIM:557000
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Short neck, Deep philtrum, Thick vermilion border, Macroglossia, Kyphosis	OMIM:616455
Hereditary Sensory And Autonomic Neuropathy Type 4	Painless fractures due to injury, Tooth abscess, Dysphagia, Corneal ulceration, Atypical scarring...	ORPHA:642
Mgat2-Cdg	Osteopenia, Dental crowding, Failure to thrive, Open mouth, Stereotypical hand wringing, Hypoplas...	ORPHA:79329
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Talip...	OMIM:616145
Jacobsen Syndrome	Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Short neck, Iris coloboma, Hip di...	ORPHA:2308
Branchiooculofacial Syndrome	Supernumerary nipple, Micrognathia, Cryptorchidism, Short neck, Iris coloboma, Hypospadias, Catar...	OMIM:113620
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Hi...	OMIM:271665
Fliedner-Zweier Syndrome	Self-injurious behavior, Long philtrum, Obesity, Joint hypermobility, Aggressive behavior, Hallux...	OMIM:620511
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Short humerus, Hyp...	ORPHA:75508
Distal Duplication 17Q	Accessory spleen, Rhizomelia, Overlapping toe, Micrognathia, Genu valgum, Cryptorchidism, Joint h...	ORPHA:3379
Coffin-Lowry Syndrome	Open mouth, Decreased body weight, Everted lower lip vermilion, High palate, Short metacarpal, Sh...	OMIM:303600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:137940
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovarus, S...	ORPHA:567
Waardenburg Syndrome	Lacrimation abnormality	ORPHA:3440
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Congenital diaphragm...	ORPHA:199
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Aggressive behavior, Hyperactivity, Dysphagia, Kyphosis, Impulsivity	ORPHA:500180
Spondyloocular Syndrome	Platyspondyly, Abnormality of the dentition, Cataract, Posterior subcapsular cataract, Osteopenia...	OMIM:605822
Dent Disease	Renal hypophosphatemia, Delayed epiphyseal ossification, Cataract, Rickets, Glycosuria, Bulging e...	ORPHA:1652
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Sparse axillary hair, Absent pubic hair, Primary amenorrhea, Absent axillary h...	ORPHA:99429
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Smooth philtrum, Motor stereotypy, Everted lower lip vermilion, Macro...	ORPHA:261144
Progeroid Short Stature With Pigmented Nevi	Cataract, Abnormal joint morphology, Allergic conjunctivitis, Irregular dentition, Thoracic scoli...	OMIM:176690
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A...	ORPHA:544488
Acromegaly	Pituitary prolactin cell adenoma, Dysmenorrhea, Elevated circulating growth hormone concentration...	ORPHA:963
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Hyperparathyroidism, Transient Neonatal	Wide nasal bridge, Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Umbilical h...	OMIM:618188
Sézary Syndrome	Alopecia, Nail dystrophy	ORPHA:3162
Congenital Primary Aphakia	Corneal perforation, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phth...	ORPHA:83461
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr...	OMIM:166220
Gm1 Gangliosidosis Type 1	Platyspondyly, Abnormal odontoid tissue morphology, Long philtrum, Beaking of vertebral bodies T1...	ORPHA:79255
Neurofibromatosis Type 1	Precocious puberty, Cataract, Chronic myelogenous leukemia, Osteopenia, Slender long bone, Pheoch...	ORPHA:636
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Zimmermann-Laband Syndrome 1	Hepatomegaly, High palate, Gingival fibromatosis, Hyperextensibility of the finger joints, Catara...	OMIM:135500
Somatomammotropinoma	Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Dysmenorrhea, El...	ORPHA:314769
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Joint hypermobili...	ORPHA:370930
Marden-Walker Syndrome	Abnormal penis morphology, Bifid uvula, Arthrogryposis multiplex congenita, Retrognathia, Abnorma...	ORPHA:2461
Bresek Syndrome	Alopecia	ORPHA:85284
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Alopecia	ORPHA:453533
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Flat acetabular roof, Cleft lip, Hamartoma of tongue, F...	OMIM:616300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Cleft lip, Ectopia pupillae, Decreased response to growth hormone sti...	OMIM:618223
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Failure to thrive, Cone-shaped epiphyses of the phalanges of...	ORPHA:420794
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow...	OMIM:187600
Geleophysic Dysplasia 1	Joint contracture of the hand, Short palm, Short metacarpals with rounded proximal ends, Hepatome...	OMIM:231050
Lethal Congenital Contracture Syndrome 10	Long philtrum, Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Thoracic scoliosis,...	OMIM:617022
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158310
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Addison Disease	Normocytic anemia, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Decreased female li...	ORPHA:85138
Cog1-Cdg	Hepatosplenomegaly, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, High palate, Fla...	ORPHA:263508
Keutel Syndrome	Alopecia	ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Mandibular prognathia, Kyphosis	OMIM:300861
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Cataract, Osteomyelitis, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis	ORPHA:88628
Cap Myopathy	High palate, Lumbar hyperlordosis, Thoracic scoliosis	ORPHA:171881
Wrinkly Skin Syndrome	Carious teeth, Delayed cranial suture closure, Cryptorchidism, Talipes equinovarus, High palate, ...	OMIM:278250
Occipital Horn Syndrome	Platyspondyly, Long philtrum, Decreased circulating ceruloplasmin concentration, Persistent open ...	OMIM:304150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Cryptorchidism, Patellar dislocation, High...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Cryptorchidism, Patellar dislocation, High...	ORPHA:353277
Lacrimoauriculodentodigital Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Lim...	ORPHA:2363
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Small pituitary gland, Long philtrum, Widely spaced teeth, Short lingual frenu...	OMIM:619479
Nasolacrimal Duct Cyst	Epiphora	ORPHA:141083
X-Linked Intellectual Disability, Snyder Type	Narrow mouth, Cryptorchidism, Arachnodactyly, Everted lower lip vermilion, High palate, Hypospadi...	ORPHA:3063
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Cataract, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, N...	OMIM:606721
Gm1-Gangliosidosis, Type I	Joint stiffness, Gingival overgrowth, Splenomegaly, Inguinal hernia, Decreased beta-galactosidase...	OMIM:230500
Yunis-Varon Syndrome	Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge...	ORPHA:3472
Proteus Syndrome	Carious teeth, Finger syndactyly, Open mouth, Cachexia, Abnormal metacarpal morphology, Calvarial...	ORPHA:744
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Cataract, Osteopenia, Pathologic fracture, Recurrent fractures, Increased suscepti...	OMIM:259770
Graft Versus Host Disease	Decreased lacrimation, Irritability	ORPHA:39812
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Autoamputation of digits, Corneal scarring, Osteomyelitis, Self-mutilation, Recurrent ...	OMIM:256800
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Macs Syndrome	Alopecia, Sparse hair, Sparse eyebrow, Hypergonadotropic hypogonadism	OMIM:613075
Cohen-Gibson Syndrome	Wide nasal bridge, Cataract, Osteopenia, Broad thumb, Retrognathia, Flared metaphysis, Umbilical ...	OMIM:617561
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Cowden Syndrome	Abnormal penis morphology, Cataract, Failure to thrive, Abnormality of the uterus, Goiter, Lipoma...	ORPHA:201
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Anterior concav...	OMIM:216340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Dysphagia, Short nose, Hypoplasia of the maxilla, Absent thum...	ORPHA:500150
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Enlarged labia mino...	OMIM:268300
Alg9-Cdg	Delayed cranial suture closure, Micrognathia, Talipes equinovarus, Short neck, Broad ischia, Abno...	ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, High palat...	OMIM:309590
Alkaptonuria	Joint dislocation, Hemolytic anemia, Joint stiffness, Black pigment gallstones, Joint swelling, I...	ORPHA:56
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia	OMIM:618282
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow movement,...	OMIM:261540
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Polycythemia, Tongue telangiectasia, Cyanosis, Hepatic arteriovenous ...	OMIM:600376
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin...	OMIM:620501
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Hypohidrosis, Sparse hair	OMIM:613451
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Small nail	ORPHA:166035
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Hepatomegaly, Motor stereotypy, Flexion contracture of digit, Ingui...	ORPHA:580
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia	ORPHA:3453
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Osteopenia, Microretrognathia, Long philtrum, Oral-pharyngeal dysphagia, Pro...	OMIM:300966
Ellis-Van Creveld Syndrome	Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft upper lip, Acetabular s...	OMIM:225500
Rett Syndrome	Abnormality of the dentition, Bruxism, Stereotypical hand wringing, Cachexia, Short foot, Scolios...	OMIM:312750
Sotos Syndrome	Abnormal vertebral morphology, Decreased fertility, Cryptorchidism, Hip contracture, Talipes equi...	ORPHA:821
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Cryptorchidism, High palate, Iris...	OMIM:309800
Mucolipidosis Type Ii	Kyphosis, Limitation of joint mobility, Limited wrist movement, Decreased movement range in inter...	ORPHA:576
Holocarboxylase Synthetase Deficiency	Alopecia	ORPHA:79242
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Vernal Keratoconjunctivitis	Epiphora	ORPHA:70476
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Micrognathia, Cryptorchidism, Brachydactyly, Camptodactyly, Clinodactyly of the 5th fi...	OMIM:619123
Carney Complex	Euthyroid multinodular goiter, Increased circulating cortisol level, Increased circulating prolac...	ORPHA:1359
Microphthalmia, Syndromic 2	Hand clenching, Decreased body weight, Contracture of the proximal interphalangeal joint of the 2...	OMIM:300166
Ane Syndrome	Hypogonadotropic hypogonadism, Alopecia	ORPHA:157954
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Phthisis bulbi, Po...	OMIM:612109
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivitis, Poikilocytosis, Unc...	ORPHA:79277
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Adams-Oliver Syndrome	Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail	ORPHA:974
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the ...	OMIM:135900
X-Linked Agammaglobulinemia	Alopecia	ORPHA:47
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Increased circulating cortisol level, Hypoglycemia, Female pseudohermaphrodit...	ORPHA:786
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Short neck, Hepatomegaly, Short foot, Short toe, Hamartoma of ...	OMIM:269860
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Redu...	OMIM:266200
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Cyanosis, Methemoglobinemia, Male ...	OMIM:250790
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Cataract, Retrognathia, Failure to thrive, Bilateral cryptorchidism, Reduced s...	OMIM:617403
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Tongue telangiectasia, Cyanosis, Hepatic arteriovenous malformation, Conjunctival t...	OMIM:187300
Doors Syndrome	Short lingual frenulum, Open mouth, Adrenal hyperplasia, Lumbar scoliosis, Aplasia/Hypoplasia of ...	ORPHA:79500
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hypermobility	OMIM:614898
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P...	ORPHA:37
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Ambiguous genitalia...	ORPHA:90795
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Aspartylglucosaminuria	Abnormal vertebral morphology, Carious teeth, Beaking of vertebral bodies, Hepatomegaly, Anterior...	ORPHA:93
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Coronal craniosynostosis, Aplastic clavicle, Delayed cranial suture closure, Abnorma...	ORPHA:85199
Traboulsi Syndrome	Bifid uvula, Cataract, Dental malocclusion, Retrognathia, Broad hallux, Short finger, Ectopia len...	OMIM:601552
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti...	OMIM:615512
Intellectual Disability-Alacrima-Achalasia Syndrome	Alacrima	ORPHA:289483
Achalasia-Addisonianism-Alacrima Syndrome	Alacrima, Ataxia	OMIM:231550
Omenn Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Nail dysplasia, Hypoplastic nipples, Hyp...	ORPHA:69085
Iniencephaly	Rhizomelia, Absent vertebra, Narrow mouth, Congenital diaphragmatic hernia, Talipes equinovarus, ...	ORPHA:63259
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Marfan Syndrome	Premature osteoarthritis, Micrognathia, Reduced subcutaneous adipose tissue, Arachnodactyly, High...	OMIM:154700
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s...	OMIM:300967
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	ORPHA:2399
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Hyperhidrosis, Flexion contracture, Scoliosis, Kyphosis	OMIM:609541
Short Syndrome	Alopecia, Sparse hair	ORPHA:3163
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Clinodactyly, Micrognathia, Open mouth, Protruding tongue, Cryptorchidism, Genu va...	OMIM:309580
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Sparse eyelashes	OMIM:610768
Dyskeratosis Congenita, Autosomal Dominant 3	Epiphora, Ataxia	OMIM:613990
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia	ORPHA:1647
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Alopecia, Nail dystrophy	OMIM:226600
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita...	OMIM:181450
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Alacrima, Decreased lacrimation, Ataxia	OMIM:609136
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Inguinal hernia, Smooth philtrum, Short philtrum, Sc...	ORPHA:261190
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Elevated circulating crea...	ORPHA:99826
Familial Dysautonomia	Alacrima, Gait disturbance, Ataxia	ORPHA:1764
Aspartylglucosaminuria	Platyspondyly, Cataract, Spondylolysis, Thick lower lip vermilion, Pathologic fracture, Spondylol...	OMIM:208400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Cataract, Dental crowding, Delayed eruption of teeth...	OMIM:300990
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Long philtrum, Tented upper lip vermilion, Cryptorchidism, Thin upper lip vermilion, Short philtr...	OMIM:619244
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Polysplenia, Tented upper lip vermilion, Cryptorchidism, Macrocytic anemia, Cong...	OMIM:614294
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Retrognathia, Clinodactyly, Spinal canal stenosis, Micrognathi...	ORPHA:1724
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Malar flat...	OMIM:603116
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Dyskeratosis Congenita, Autosomal Recessive 1	Epiphora	OMIM:224230
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse body hair, Supernumerary nipple, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Alopecia, Abnormal libido, Hirsutism	ORPHA:189427
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Keratitis, Abnormality of the vertebral column, Ect...	ORPHA:2273
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Kyphosis, Microdontia, Short sternum, Postaxial hand pol...	OMIM:258850
Lacrimoauriculodentodigital Syndrome 2	Alacrima	OMIM:620192
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ...	OMIM:602152
Zttk Syndrome	Small hand, Narrow mouth, Absent gallbladder, High palate, Short foot, Short nose, Hypoplasia of ...	OMIM:617140
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta...	ORPHA:2502
Mogs-Cdg	Long eyelashes, Alopecia, Fair hair, Hirsutism	ORPHA:79330
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati...	OMIM:194380
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion contracture, Absent uvula, Bilateral...	OMIM:619708
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Alacrima, Emotional lability	OMIM:223900
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Downturned corners of mouth, Prominent fingertip pads, Overlapping toe, Thin upper lip vermilion,...	OMIM:619557
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Absen...	ORPHA:158687
Celiac Disease, Susceptibility To, 1	Infertility, Alopecia	OMIM:212750
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype...	ORPHA:91351
Apparent Mineralocorticoid Excess	Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r...	ORPHA:320
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger, Micrognathia, Malar flattening, Inguinal hernia, High p...	OMIM:609944
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia	OMIM:615577
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ...	OMIM:250220
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n...	ORPHA:79318
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Giant Cell Arteritis	Alopecia, Hyperhidrosis	ORPHA:397
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia	ORPHA:169154
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pu...	ORPHA:99867
Classical Ehlers-Danlos Syndrome	Talipes equinovarus, Patellar dislocation, Dislocated radial head, Cervical insufficiency, Hip di...	ORPHA:287
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Phthisis bulbi, Leukocoria, Corneal opacity...	ORPHA:91495
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Hypogonadotropic hypogonadism, Premature ovarian insufficiency, Sparse hair,...	OMIM:241080
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple...	OMIM:230740
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Fibular aplasia, Micrognathia, Narrow mouth, Cryptorchidism, Enlarged labia...	ORPHA:3404
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Epiphyseal stippling, Hip contracture, Knee flexion contracture, Talipes equinovarus, H...	OMIM:118650
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia, Scoliosis, Kyphosis	ORPHA:702
Cockayne Syndrome Type 3	Lentiglobus, Cataract, Microcornea, Carious teeth, Elevated circulating hepatic transaminase conc...	ORPHA:90324
Shprintzen Omphalocele Syndrome	Wide nasal bridge, Lumbar hyperlordosis, Decreased body weight, Omphalocele, Thin vermilion borde...	OMIM:182210
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Polydactyly, Brachydactyly, Short long bone, Scoliosis	OMIM:613819
Acquired Methemoglobinemia	Methemoglobinemia, Hypoxemia, Cyanosis	ORPHA:464453
Norrie Disease	Self-injurious behavior, Cataract, Ectopia lentis, Uterine rupture, Failure to thrive, Hypoplasia...	ORPHA:649
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Hepatitis, Type II diabetes mellitus, Keratoconjunctivitis, Iron defi...	OMIM:269200
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Widely spaced teeth, Hypopituit...	OMIM:300942
Glucocorticoid Deficiency 2	Alacrima	OMIM:607398
Dyskeratosis Congenita, Digenic	Epiphora	OMIM:620040
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Sparse scalp hair	OMIM:614008
Lacrimoauriculodentodigital Syndrome 3	Alacrima	OMIM:620193
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse...	ORPHA:2108
Eec Syndrome	Lacrimation abnormality	ORPHA:1896
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Glycosuria, Failure to thrive, Polydi...	ORPHA:411634
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Uterus didelphys, Short tibia, Preaxial polydactyly, Hamartoma of tongue,...	OMIM:617925
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Carious teeth, Cleft lip, Long philtrum, Elbow flexion contracture, C...	OMIM:117650
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Increased circulating lactate dehydrogenase concentration, Thick upper lip ver...	OMIM:611091
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Keloids, Cryptorchidism, Oligozoospermia	OMIM:314300
Dyskeratosis Congenita, X-Linked	Cataract, Carious teeth, Oral leukoplakia, Pterygium, Decreased testicular size, Pancytopenia, Le...	OMIM:305000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Axenfeld anomaly, Arachn...	ORPHA:261537
Hereditary Elliptocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Meckel Syndrome	Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Congenital hepatic fibrosis, Bowing of ...	ORPHA:564
Leigh Syndrome	Frontal hirsutism, Alopecia, Hypertrichosis	ORPHA:506
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Alacrima, Ataxia	OMIM:615510
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Radial head subluxation, Absent radius, Hypoparathyroi...	OMIM:214800
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hand polydacty...	OMIM:314390
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia totalis, Alopecia, Nail dystrophy, Abnormality of the periungual region	ORPHA:293978
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Decreased lacrimation, Ataxia	ORPHA:163746
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Limbal stem cell deficiency, Delayed eruption of p...	OMIM:149730
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Mydriasis, Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick...	OMIM:619727
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Ectopia pupillae, Long hallux, Genu valgum, Open mouth, Cryptorchidism, Axenfe...	ORPHA:261552
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Conjunctival icterus, Increased circulating lactate deh...	ORPHA:447
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Alacrima	OMIM:615560
Myasthenic Syndrome, Congenital, 20, Presynaptic	Dysphagia, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis	OMIM:617143
Kilquist Syndrome	Alacrima	OMIM:619080
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Axenfeld anomaly, Decreased body weig...	ORPHA:2152
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Cachexia, Genu varum, Anorexia, Scoliosis, Kyphosis	ORPHA:1969
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Apparent Mineralocorticoid Excess	Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level	OMIM:218030
Intellectual Developmental Disorder, X-Linked 112	Hypospadias, Cryptorchidism, Kyphoscoliosis, Madelung deformity, Joint hypermobility, Attention d...	OMIM:301111
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Patchy alopecia	OMIM:606367
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Dysphagia, Kyphosis	OMIM:619909
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Ramon Syndrome	Delayed eruption of teeth, Enlarged labia minora, Axenfeld anomaly, Decreased body weight, Juveni...	OMIM:266270
Mixed Connective Tissue Disease	Alopecia	ORPHA:809
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Pallister-Killian Syndrome	Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Delayed cranial sutu...	OMIM:601803
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia	OMIM:613677
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,...	OMIM:615503
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Mesomelia, Microglossia, Hepatic fibrosis, Postaxial pol...	OMIM:263520
Systemic Sclerosis	Nail bed telangiectasia, Alopecia, Hypohidrosis	ORPHA:90291
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Ankle clonus, Scoliosis, Dysphagia, Kyphosis	OMIM:211530
Amoebiasis Due To Free-Living Amoebae	Confusion, Increased tear production, Irritability, Ataxia	ORPHA:68
Charge Syndrome	Lacrimation abnormality, Attention deficit hyperactivity disorder	ORPHA:138
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i...	ORPHA:231580
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Bartsocas-Papas Syndrome 1	Alopecia, Small nail, Alopecia totalis, Absent eyelashes, Absent eyebrow, Anonychia, Sparse scalp...	OMIM:263650
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, Talipes equinovarus, High ...	OMIM:613795
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, An...	OMIM:618278
Lymphedema-Distichiasis Syndrome	Cellulitis, Cleft upper lip, Micrognathia, Recurrent corneal erosions, Conjunctivitis, Corneal ul...	OMIM:153400
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Ovarian neoplasm, Decreased circulating renin level, Glucocortocoid-insensitive prim...	ORPHA:231632
Rett Syndrome, Congenital Variant	Bruxism, Thin upper lip vermilion, Talipes equinovarus, Motor stereotypy, Tongue thrusting, Scoli...	OMIM:613454
Isolated Congenital Alacrima	Alacrima	ORPHA:91416
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract, Uterus didelphys, Cleft upper lip, Long philtrum, Absent or minimally ossified vertebra...	ORPHA:93271
Omenn Syndrome	Alopecia	OMIM:603554
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:363618
Postencephalitic Parkinsonism	Dysphagia, Camptocormia, Open mouth, Kyphosis	ORPHA:97349
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Biotinidase Deficiency	Alopecia	OMIM:253260
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Alopecia, Absent eyebrow, Hypertrichosis	OMIM:263700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Neutral Lipid Storage Disease With Ichthyosis	Alopecia	ORPHA:98907
Autosomal Dominant Hypocalcemia	Abnormal fingernail morphology, Alopecia, Abnormality of the nail	ORPHA:428
Alkaptonuria	Limited hip movement, Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Ar...	OMIM:203500
Helix Syndrome	Alacrima	OMIM:617671
Woodhouse-Sakati Syndrome	Alopecia, Hypogonadism, Aplasia/Hypoplasia of the eyebrow, Streak ovary, Abnormal spermatogenesis...	ORPHA:3464
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Focal Dermal Hypoplasia	Alopecia, Abnormality of the nail	ORPHA:2092
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Leprosy	Alopecia, Sparse body hair, Loss of eyelashes, Hypohidrosis, Absent eyebrow	ORPHA:548
Partial Androgen Insensitivity Syndrome	Male sexual dysfunction, Azoospermia, Abnormality of secondary sexual hair, Primary amenorrhea, M...	ORPHA:90797
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Nail dystrophy	ORPHA:37042
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79396
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Trisomy 8P	Decreased lacrimation	ORPHA:264450
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Alopecia universalis, Hypohidrosis, Nail dystrophy	ORPHA:158668
Congenital Disorder Of Deglycosylation 1	Alacrima, Athetosis, Dysmetria	OMIM:615273
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Depression, Decreased lacrimation, Emotional lability	ORPHA:293987
Stüve-Wiedemann Syndrome	Lacrimation abnormality	ORPHA:3206
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Splenomegaly, Aplasia of the epiglottis, Median cleft up...	OMIM:617088
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Biotinidase Deficiency	Alopecia	ORPHA:79241
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Autoimmune Polyendocrinopathy Type 4	Alopecia, Hypergonadotropic hypogonadism	ORPHA:227990
Orofaciodigital Syndrome Type 1	Alopecia, Sparse hair, Coarse hair, Brittle hair	ORPHA:2750
Aromatase Deficiency	Female infertility, Male infertility, Generalized hirsutism, Primary amenorrhea, Hypergonadotropi...	ORPHA:91
Viss Syndrome	Recurrent joint dislocation, Micrognathia, Cleft soft palate, Genu valgum, Contracture of the pro...	OMIM:619472
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Alacrima	OMIM:614653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Alacrima	OMIM:618548
Colchicine Poisoning	Alopecia	ORPHA:31824
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Failure to thrive, Polyspleni...	OMIM:306955
Autoimmune Polyendocrinopathy Type 3	Alopecia, Hypergonadotropic hypogonadism	ORPHA:227982
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Abnormality of the vertebral column, Beaking of vertebral bodies ...	ORPHA:97685
Steinert Myotonic Dystrophy	Early balding, Alopecia, Male hypogonadism, Decreased fertility, Testicular atrophy, Impotence, H...	ORPHA:273
Autosomal Dominant Robinow Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Long eyelashes, ...	ORPHA:3107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail	OMIM:308050
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis	OMIM:106300
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nuc...	OMIM:266120
Juvenile Dermatomyositis	Alopecia	ORPHA:93672
Xeroderma Pigmentosum	Hypogonadism, Alopecia	ORPHA:910
Phakomatosis Pigmentokeratotica	Patchy alopecia, Hyperhidrosis	ORPHA:2874
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Scalp-Ear-Nipple Syndrome	Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Hypohidrosis, Spar...	OMIM:181270
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, High palate, Scoliosis, Kyphosis	OMIM:177850
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Absent eyelashes, Nail dysplasia, D...	OMIM:308205
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Deeah Syndrome	Alacrima	OMIM:619004
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Nail dystrophy, Anonychia, Abnormality of the nail, Paronychia	ORPHA:79404
46,Xy Partial Gonadal Dysgenesis	Sparse pubic hair, Azoospermia, Streak ovary, Sparse axillary hair, Decreased fertility in female...	ORPHA:251510
Cerebrocostomandibular Syndrome	Tracheomalacia, Micrognathia, Short hard palate, Clinodactyly of the 5th finger, Glossoptosis, Ky...	ORPHA:1393
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Sarcoidosis, Susceptibility To, 1	Epiphora	OMIM:181000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair	ORPHA:2636
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of the ovary	OMIM:619321
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased lacrimation	ORPHA:572333
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Dermatomyositis	Alopecia, Abnormality of the nail, Abnormal hair quantity	ORPHA:221
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Alopecia totalis, Delayed menarche, Loss of eyelashes, Dystrophic fingernails...	ORPHA:740
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Astigmatism, Dysphagia, Scoliosis, Kyphosis	OMIM:619482
Schinzel-Giedion Syndrome	Alacrima	ORPHA:798
African Trypanosomiasis	Abnormality of the menstrual cycle, Infertility, Alopecia, Impotence	ORPHA:3385
Relapsing Polychondritis	Alopecia	ORPHA:728
Chronic Graft Versus Host Disease	Alopecia, Nail dystrophy, Onycholysis	ORPHA:99921
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
Kikuchi-Fujimoto Disease	Alopecia	ORPHA:50918
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Increased tear production, Depression	ORPHA:95455
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Ankle clonus	ORPHA:171629
Behcet Syndrome	Patchy alopecia	OMIM:109650
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Dysphagia, Short humerus, Short femur	OMIM:618367
Sarcoidosis	Alopecia	ORPHA:797
Vascular Ehlers-Danlos Syndrome	Abnormality of hair texture, Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eye...	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	Life Stage
Testes - process of degenerative change	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Eye with optic nerve - developmental and structural abnormality	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Epididymis - hypoplasia	Nsun2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Eye with optic nerve - MPATH diagnostic term synechia	Nsun2^{tm1a(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)	Nsun2^{tm1c(EUCOMM)Wtsi}	PMC9807547
Neuronal Nsun2 deficiency produces tRNA epitranscriptomic alterations and proteomic shifts impacting synaptic signaling and behavior.	Nature communications (August 2021)	Nsun2^{tm1c(EUCOMM)WtsiOulu}	PMC8363735
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Nsun2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Nsun2^{tm1a(EUCOMM)Wtsi} Nsun2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Cytosine-5 RNA Methylation Regulates Neural Stem Cell Differentiation and Motility.	Stem cell reports (December 2016)	Nsun2^{tm1a(EUCOMM)Wtsi}	PMC5233436
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Nsun2^{tm1a(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)	Nsun2^{tm1a(EUCOMM)Wtsi}	PMC4207618
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Nsun2^{tm1a(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)	Nsun2^{tm1a(EUCOMM)Wtsi}	PMC3624257
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.	American journal of human genetics (April 2012)	Nsun2^{tm1a(EUCOMM)Wtsi}	PMC3376419
The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate.	PLoS genetics (December 2011)	Nsun2^{tm1c(EUCOMM)Wtsi} Nsun2^{tm1a(EUCOMM)Wtsi}	PMC3228827

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MGI Allele	Allele Type	Produced
Nsun2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nsun2^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Nsun2^{tm42933(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Nsun2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nsun2 MGI:107252

Gene Summary

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lacZ Expression

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Human diseases caused by Nsun2 mutations

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