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Gene: Nsdhl MGI:1099438

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

NAD(P) dependent steroid dehydrogenase-like

Synonyms:

bare patches, striated, H105E3, Bpa, XAP104, Str

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nsdhl 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 Nsdhl (3 diseases)
Human diseases predicted to be associated with Nsdhl (2190 diseases)

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

Disease	Matching phenotypes	Source
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383

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

Disease	Matching phenotypes	Source
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism, Scoliosis	OMIM:307150
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Book Syndrome	Premature graying of hair	OMIM:112300
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Ichthyosis-Hypotrichosis Syndrome	Sparse hair, Ichthyosis	ORPHA:91132
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation	ORPHA:1336
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis, Anterior cervical hypertrichosis, Sacral hypertrichosis, Thoracic hypertrichosis,...	OMIM:117850
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Parana Hard Skin Syndrome	Generalized hyperpigmentation, Tapered finger, Thickened skin, Hyperkeratosis, Generalized hirsut...	ORPHA:2812
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis	ORPHA:79503
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Tapered finger, Short finger, Death in childhood, Abnormality of the nail, Hype...	OMIM:302000
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb...	OMIM:275400
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Polydactyly, Postaxial, Type A6	Abnormality of the nail, Abnormal sweat gland morphology	OMIM:615226
L-Ferritin Deficiency	Alopecia	OMIM:615604
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp...	ORPHA:79395
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation, Hyperkeratosis	ORPHA:315
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc...	OMIM:212360
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Limitation of joint mobility, Ectopic ossification in liga...	ORPHA:337
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal heart morp...	ORPHA:439167
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Congenital Heart Block	First degree atrioventricular block, Hydrops fetalis, Atrioventricular block, Pallor, Vaginal bir...	ORPHA:60041
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Hyperpigmentation of the skin, Camptodactyly of finger, Short thumb,...	ORPHA:2251
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spo...	ORPHA:79399
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Abnormal retinal morphology, Albinism, Kyphosis, Platyspondyly, Hypopig...	ORPHA:2786
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Hypohidrosis With Abnormal Palmar Dermal Ridges	Decreased number of sweat glands	OMIM:241120
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Abnormal hair morphol...	ORPHA:317
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal diaphysis morphology, White fore...	ORPHA:2779
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker...	ORPHA:89838
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali...	ORPHA:170
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin...	ORPHA:3363
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Camptodactyly of finger, Absent fingernail, Fingernail dysplasia, Broad thu...	ORPHA:1471
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Low ant...	OMIM:618658
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange...	ORPHA:3237
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Macular degeneration, Abnormality ...	ORPHA:1573
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Intellectual Developmental Disorder, X-Linked 91	Small hand, Obesity, Low posterior hairline, Short foot, Short 5th finger, Cubitus valgus, Clinod...	OMIM:300577
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis, Scleroderma, Hyperpigmentation in sun-exposed areas	OMIM:176100
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Spar...	OMIM:242300
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Synophrys, Brachydactyly	OMIM:612001
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epip...	ORPHA:177
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding, Brachy...	OMIM:619692
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Micrognathia, Flexi...	OMIM:215100
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo...	ORPHA:1078
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Clinodactyly, Joint hypermobility, Fragile nails, Fine hair	ORPHA:500166
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Ichthyosis, Split Hairs, And Amino Aciduria	Abnormal hair morphology, Congenital ichthyosiform erythroderma	OMIM:242550
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital...	OMIM:607602
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Slow-growing scalp...	OMIM:601345
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Cafe-au...	OMIM:618625
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Split hand, Flexion contracture, Ichthyosis, Sparse body hair, Aplas...	ORPHA:2850
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Hyperkeratosis...	OMIM:136300
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Keratoderma Hereditarium Mutilans	Alopecia, Autoamputation of digits, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Hyperkerat...	ORPHA:494
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Pal...	ORPHA:2890
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal...	OMIM:618392
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Small nail, Distal foot sympha...	OMIM:185700
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Kerion Celsi	Alopecia	ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Hyperpigmentation of the skin, Micrognathia, Small ha...	ORPHA:444002
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Hypomelanosis Of Ito	Syndactyly, Alopecia, Cataract, Macular hypopigmented whorls, streaks, and patches, Hand polydact...	OMIM:300337
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Cooks Syndrome	Split hand, Aplastic/hypoplastic toenail, Triphalangeal thumb, Abnormal toenail morphology, Dystr...	ORPHA:1487
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism	OMIM:300650
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Absent fifth fingernail, Toe syndactyly, Absent middle phalanx of 5th finger, Absent thumbnail, A...	OMIM:124480
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Ne...	OMIM:609638
Bardet-Biedl Syndrome 18	Cataract, Obesity, Brachydactyly	OMIM:615995
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Abnormal fingernail morphology, Sh...	ORPHA:93384
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Low anterior hairline,...	OMIM:615314
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes equinovarus, H...	ORPHA:85288
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, T...	OMIM:617337
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Tetrasomy X	Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra...	ORPHA:9
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong...	OMIM:602400
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Pseudoachondroplasia	Irregular acetabular roof, Limited hip extension, Distal joint laxity, Metaphyseal widening, Dela...	ORPHA:750
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia	OMIM:247100
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ...	ORPHA:69087
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula...	OMIM:613102
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th...	ORPHA:370010
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteoly...	ORPHA:88630
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Optic atrophy, Platyspondyly, Scoliosis, Rod-cone dystrophy, Retinal deg...	OMIM:602271
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,...	OMIM:615821
Winchester Syndrome	Kyphosis, Hirsutism	OMIM:277950
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ...	ORPHA:1927
Albinism, Oculocutaneous, Type Vi	Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair	OMIM:113750
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Inhalational Anthrax	Abnormal sweat gland morphology	ORPHA:247257
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula...	ORPHA:90064
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles, Chorioretinal co...	OMIM:601706
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Alopecia, Thin bony cortex, Rickets of the lower limbs, Bulging epiphys...	OMIM:600785
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615983
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Kyphosis, Hyperkeratosis, Coarse hair, Scoliosis, Sparse hair	ORPHA:1883
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, O...	ORPHA:1515
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute...	ORPHA:73272
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Abnormal fingernail morphology, Micrognathia, Preaxial hand polydactyly, Radial...	ORPHA:1278
Bathing Suit Ichthyosis	Parakeratosis, Alopecia, Thickened skin, Palmoplantar hyperkeratosis, Nail dystrophy, Congenital ...	ORPHA:100976
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dyspla...	ORPHA:2370
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Juven...	ORPHA:1264
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Darier Disease	Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Thickened skin, Abnormality of sk...	ORPHA:218
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphy...	ORPHA:93308
Nicolaides-Baraitser Syndrome	Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ...	ORPHA:3051
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Flexion contracture, Hip dislocation, Cutaneous finger syndactyly, Short middle phalanx...	OMIM:203550
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Cornelia De Lange Syndrome 2	Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Microg...	OMIM:300590
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Waardenburg Syndrome, Type 3	Scapular winging, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopigmente...	OMIM:148820
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Cataract, Reduced bone mineral density, Hype...	ORPHA:2611
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Specific Granule Deficiency 2	Osteopenia, Death in infancy, Sandal gap, Fragile nails, Nail dysplasia, Death in childhood, Acan...	OMIM:617475
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe...	OMIM:616809
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Tapered finger, Spotty hyp...	ORPHA:1867
Mal De Meleda	Ichthyosis, Congenital symmetrical palmoplantar keratosis, Fragile nails, Brachydactyly	OMIM:248300
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Short toe, Hyperkeratosis, Palmar...	OMIM:242100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Flexion contracture, Coxa vara...	OMIM:617396
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Osteoporoti...	OMIM:609052
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Small nail, Short palm, Clinodactyly of t...	OMIM:193530
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela...	ORPHA:2414
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Joint stiffness, Small hand, Abnormal femur morpho...	ORPHA:969
Dermoodontodysplasia	Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Clinodactyly, Horizontal eyebrow, 2-3 toe syndactyly	OMIM:619311
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Cachexia, Tape...	ORPHA:2930
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly arched eyebrow, Mi...	OMIM:600325
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis...	ORPHA:166113
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:204200
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr...	ORPHA:166002
Aland Island Eye Disease	Albinism	OMIM:300600
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis, Hirsutism	OMIM:300434
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Highly arched eyebrow	OMIM:609384
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Prea...	ORPHA:3098
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Craniosynostosis, A...	ORPHA:1520
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi...	ORPHA:2741
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Orthokeratotic hyperkeratosis, Palmoplantar ker...	ORPHA:498359
Keipert Syndrome	Joint laxity, Broad hallux, Absent toenail, Broad distal phalanx of finger, Camptodactyly, Clinod...	OMIM:301026
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Brachydactyly, Single transverse palmar crease, Abnormality of hair...	OMIM:601957
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Optic atrophy, Optic disc pallor, Scoliosis	OMIM:617087
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Hirsutism, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow	ORPHA:3406
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Arachnodactyly, Micrognathia, Cone-shaped epip...	ORPHA:2824
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow	ORPHA:2429
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ...	OMIM:605676
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Low anterior hairline, Cone-shaped epiphyses of the phalang...	OMIM:602849
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,...	ORPHA:411527
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cataract, Cachexia, Joint stiffness, Abnormal thumb morp...	ORPHA:3242
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal hand met...	ORPHA:166011
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis...	OMIM:616455
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperfl...	ORPHA:1803
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis...	ORPHA:177910
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Blue irides, ...	OMIM:614613
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal...	ORPHA:254534
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Synophr...	OMIM:619260
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Corneal erosion, Palmoplantar keratoderma, Ichthyosis, Failure to thrive, Ab...	ORPHA:79394
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Joint stiffness, Abnormality of the elbow, Hip dislocation, Hyperker...	ORPHA:1005
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Ruijs-Aalfs Syndrome	Cataract, Single transverse palmar crease, Down-sloping shoulders, Micrognathia, Posterior subcap...	OMIM:616200
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Satoyoshi Syndrome	Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge...	OMIM:600705
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Autosomal Dominant Epidermolytic Ichthyosis	Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	ORPHA:312
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of t...	ORPHA:2496
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Retinal detachment, Poliosis, Abnormal eyelash mo...	ORPHA:3437
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris coloboma, Brac...	OMIM:610023
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:616390
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C...	ORPHA:3210
Bardet-Biedl Syndrome 4	Cryptorchidism, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hyperkeratosis, Onycholysis	ORPHA:525
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly	ORPHA:40
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Abnormal eyelash morphology, Abnormality of the elbow, Joint hyperflexibi...	ORPHA:2220
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Synophrys, Joint hyperflexibility, C...	ORPHA:1390
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor...	OMIM:256050
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Keratitis, Osteoarthritis, Osteolysis, Dystrophic fin...	ORPHA:1657
Baralle-Macken Syndrome	Cataract, Tapered finger, Obesity, Acanthosis nigricans, Cafe-au-lait spot, Hirsutism	OMIM:619255
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios	OMIM:613885
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Split hand, Triphalangeal thumb,...	ORPHA:1406
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Long fingers, Bulle...	ORPHA:1617
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Alopecia totalis, Joint stiffness, Palmoplantar keratoderma, Nail dystrophy	ORPHA:1366
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Osteolysis, Hyperkerat...	ORPHA:3019
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Deat...	OMIM:309400
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes...	ORPHA:65759
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Atrial septal defect, Premature birth...	ORPHA:363705
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Kyphosis, Macular degeneratio...	ORPHA:816
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron...	OMIM:614078
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Ichthyosis, Aca...	ORPHA:2221
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Abnormal hip joint morphology, Cataract, Broad hallux, Short metatarsal, ...	ORPHA:1856
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Hall-Riggs Syndrome	Slow-growing hair, Thick hair, Joint stiffness, Coarse hair, Abnormal epiphysis morphology, Limb ...	ORPHA:2107
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Microcornea, P...	ORPHA:313781
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Me...	OMIM:615632
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormality of the elbow, Hyperkeratosis, Nail dystrophy, Abnormality of the wrist, Abnormal fore...	ORPHA:89843
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Griscelli Syndrome Type 1	Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation	ORPHA:79476
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod...	OMIM:261990
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Imagawa-Matsumoto Syndrome	Melanocytic nevus, Large hands, Camptodactyly, Clinodactyly, Hypertrichosis	OMIM:618786
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Patchy alopecia, Talipes equinovarus, Short palm, Multip...	ORPHA:85279
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Palm...	OMIM:612843
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Thick eyebrow, Bra...	OMIM:614684
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Syndactyly, Short digit, Sparse scalp hair, Small for gestational age, Microretrognat...	OMIM:615789
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ab...	ORPHA:93323
Frontonasal Dysplasia 1	Cataract, Postaxial hand polydactyly, Widow's peak, Hypoplastic frontal sinuses, Pectoral muscle ...	OMIM:136760
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H...	ORPHA:79431
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Scoliosis	OMIM:615704
Classic Mycosis Fungoides	Alopecia, Hypopigmented skin patches, Hyperkeratosis, Irregular hyperpigmentation, Abnormality of...	ORPHA:2584
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Weill-Marchesani Syndrome	Cataract, Ectopia lentis, Short thumb, Thickened skin, Limitation of joint mobility, Brachydactyly	ORPHA:3449
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Ichthyosis	OMIM:618840
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ...	OMIM:239850
Phenobarbital Embryopathy	Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Short Syndrome	Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypopla...	ORPHA:3163
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Short stature, Congestive heart failure, Paroxysmal at...	ORPHA:49827
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Highly arched eyebrow, Craniosynostosis, Genu varum, Hip dislocation, D...	OMIM:619451
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Synophrys, Decreased body weight, Clinodactyly, Hirsutism	ORPHA:357175
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Abnormal hair morphology, Preaxial polydactyly, Icht...	ORPHA:64754
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows of e...	ORPHA:163654
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Tho...	OMIM:270200
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystr...	ORPHA:158681
2q37 monosomy	Brachydactyly	DECIPHER:44
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Short...	OMIM:618961
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Scoliosis, Webbed neck	OMIM:615279
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Lamb-Shaffer Syndrome	Long fingers, Clinodactyly, Overlapping toe, Long hallux	OMIM:616803
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ...	ORPHA:2928
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Micromelia	OMIM:273680
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Nail dystrophy, ...	OMIM:618373
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax...	ORPHA:2269
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace...	OMIM:617405
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Hip...	OMIM:619762
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Hb Bart'S Hydrops Fetalis	Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios	ORPHA:163596
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Odontochondrodysplasia 1	Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis...	OMIM:184260
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anomalous pulmonary...	ORPHA:555874
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization	OMIM:608895
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hirschsprung Disease-Type D Brachydactyly Syndrome	Brachydactyly, Aplastic/hypoplastic toenail, Short distal phalanx of the thumb, Short phalanx of ...	ORPHA:2150
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Bresek Syndrome	Alopecia, Postaxial hand polydactyly, Ichthyosis, Neonatal death, Iris coloboma	ORPHA:85284
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Synophrys, Decreased body weight, Clinodactyly, Hirsutism	OMIM:615162
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Kyphosis, Cryptorchidism, Low posterior hairline, Premature graying of ha...	ORPHA:2617
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Srd5A3-Cdg	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Abnormal hair morph...	ORPHA:324737
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Flexion contracture, Small hand...	OMIM:615547
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Absent thumb, Aplasia/Hypop...	ORPHA:1234
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Large ilia...	ORPHA:3168
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis, Kyphoscoliosis	OMIM:618339
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Fai...	OMIM:612626
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Postaxial polydactyly, Postaxial h...	OMIM:615986
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Leri Pleonosteosis	Camptodactyly of finger, Joint stiffness, Elbow dislocation, Thickened skin, Abnormal finger morp...	ORPHA:2900
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Pseudoachondroplasia	Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fra...	OMIM:177170
Metatropic Dysplasia	Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Hypertrichosis	OMIM:614898
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post...	ORPHA:474
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic isch...	ORPHA:1865
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Cataract, Absent toe, Split h...	ORPHA:974
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Broad nail, Coxa ...	ORPHA:63446
Dermatopathia Pigmentosa Reticularis	Reticular hyperpigmentation, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Micrognathia, Low anterior hairline, Developmental cat...	OMIM:614219
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Brachydactyly, Thick hair, Micrognathia, Synophrys, Hip dysplasia, Long eyelashes, Horizontal eye...	OMIM:618381
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Truncal obesity,...	ORPHA:3224
Laurence-Moon Syndrome	Finger syndactyly, Cataract, Bilateral single transverse palmar creases, Obesity, Hand polydactyl...	ORPHA:2377
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Micrognathia...	ORPHA:742
Intellectual Developmental Disorder, Autosomal Dominant 59	Highly arched eyebrow, Short foot, Short palm, Fragile nails, Brachydactyly	OMIM:618522
Crisponi/Cold-Induced Sweating Syndrome 2	Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly	OMIM:610313
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Joint hypermobility, Hip subluxation, Squared...	OMIM:618853
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal epiphysis morpholo...	ORPHA:2631
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly	OMIM:615984
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Lens luxation, Ectopia lent...	OMIM:224400
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Moebius Syndrome	Syndactyly, Brachydactyly, Micrognathia, Split hand, Abnormal pelvic girdle bone morphology, Arth...	OMIM:157900
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkerato...	OMIM:613707
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Short toe, Obesity, Acanthosis nigricans, Brachyda...	ORPHA:3085
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color, Epiphyseal dysplasia, Joint stiff...	ORPHA:1824
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Progressive Osseous Heteroplasia	Hypermelanotic macule, Osteoarthritis, Limitation of joint mobility, Ectopic ossification in musc...	ORPHA:2762
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Corneal opacity, Recurrent fractures, Abnormal toe morphology, Abnormal fin...	OMIM:163200
Wilson-Turner Syndrome	Cataract, Tapered finger, Micrognathia, Small hand, Short foot, Truncal obesity, Thick eyebrow	ORPHA:3459
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Craniosynostosis, Micrognathia, Absent...	ORPHA:166035
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Prieto Syndrome	11 pairs of ribs, Coxa valga, Osteoporosis, Talipes equinovarus, Radial deviation of finger, Clin...	OMIM:309610
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Micrognathia, D...	OMIM:610756
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Hypoplastic s...	OMIM:614813
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Thickened skin, Palmoplantar keratoderma, Ichthyosis, Irregular hyperpi...	ORPHA:2897
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Potocki-Shaffer Syndrome	Sparse lateral eyebrow, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachyd...	OMIM:601224
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Lichen Planus Pemphigoides	Hyperkeratosis, Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short metatarsal, Obesity, Osteoporosis, Brachydactyly	OMIM:612463
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia, Hype...	OMIM:175500
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Micromelia, Hypop...	ORPHA:93296
Temtamy Syndrome	Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th finger, Iris...	ORPHA:1777
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Costello Syndrome	Deep-set nails, Keratoconus, Generalized hyperpigmentation, Failure to thrive in infancy, Abnorma...	ORPHA:3071
Tonne-Kalscheuer Syndrome	Concave nail, Shyness, Micrognathia, Blue irides, Fine hair, Small nail, Broad thumb, Brachydactyly	OMIM:300978
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Trichoschisis, Small for gestational age, Cataract, Flexion contr...	OMIM:601675
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Clinodactyly of the 5th finger, Central post...	OMIM:244600
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Ulnar deviation of the hand, Limb joint contracture, Melanocytic nevus	OMIM:612079
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Adducted thumb, High anterior hairline, Brach...	OMIM:620062
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Abnormal fingernail morpholog...	ORPHA:1319
Pelviscapular Dysplasia	Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Scheie Syndrome	Spondylolisthesis, Retinal degeneration, Short neck	OMIM:607016
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Small for gestational age, Brachydactyly	OMIM:610498
Oculomaxillofacial Dysostosis	Brachydactyly, Corneal opacity, Camptodactyly of finger, Micrognathia, Abnormality of the humerus...	ORPHA:1794
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Retinal dystrophy, Scoliosis	OMIM:616756
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope...	OMIM:604536
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Abnormal femur morphology, ...	ORPHA:3130
Congenital Disorder Of Glycosylation, Type Il	Decreased fetal movement, Edema, Pericardial effusion, Abnormal cardiac septum morphology, Ascites	OMIM:608776
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Optic Atrophy 1	Pallor	OMIM:165500
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Hyperpigmentation of the skin, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Osteoporosis, Obesity...	ORPHA:3409
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Micromelia, Postaxial polydactyly, Fl...	OMIM:614091
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Cataract, Thickened skin, Anonychia, Generalized hirsutism, Brach...	ORPHA:1563
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Trichotillomania	Alopecia	OMIM:613229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Thoracic scoliosis, Macular atrophy, Optic atrophy, Lumbar scoliosis, Retinopathy	OMIM:616171
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho...	OMIM:257980
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Highly a...	ORPHA:1327
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Wide pubic...	OMIM:620073
Achondroplasia	Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Abnorm...	ORPHA:15
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow,...	ORPHA:35173
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Abnormality of retinal pigmentation, Miscarria...	ORPHA:902
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Brachydactyly	OMIM:165800
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abno...	ORPHA:93160
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Proximal placement of thumb, Abnormal thumb morphology, ...	ORPHA:94065
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Suleiman-El-Hattab Syndrome	Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal...	OMIM:618950
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Coffin-Siris Syndrome 2	Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap, Low anterior hairline, Lon...	OMIM:614607
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Micrognathia, Synophrys, Palm...	ORPHA:3253
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Failure to thrive, Hyperpigmentation of the skin, Bilateral single transv...	ORPHA:50812
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met...	ORPHA:93314
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Oculodentodigital Dysplasia	Brittle hair, Micrognathia, Microcornea, Sparse hair, Clinodactyly of the 5th finger, Abnormality...	ORPHA:2710
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Clubbing, Reticular hyperpigmentation, Generalized reticulate brown...	OMIM:301220
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Micrognathia, Premature graying of hair, Microcornea, Short palm, Spa...	OMIM:268400
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Rothmund-Thomson Syndrome	Osteopenia, Reduced bone mineral density, Sparse hair, Juvenile cataract, Hypopigmentation of the...	ORPHA:2909
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hyperconvex nail, Delayed proximal femoral ...	ORPHA:353298
Harlequin Ichthyosis	Cataract, Limitation of joint mobility, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ha...	ORPHA:457
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Long fingers, Flexion contracture, Talipes equinovarus, Small nail, Nail dyspl...	OMIM:601110
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Obesity, Short foot, Impaired social interactions, Clinodactyly, Joint ...	ORPHA:254531
Congenital Enterovirus Infection	Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M...	ORPHA:292
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Proteus Syndrome	Limbal dermoid, Mandibular hyperostosis, Depigmentation/hyperpigmentation of skin, Hyperkeratosis...	OMIM:176920
Blepharocheilodontic Syndrome 1	High anterior hairline, Cutaneous syndactyly, Small nail, Nail dysplasia, Sparse hair, Clinodacty...	OMIM:119580
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst...	OMIM:308800
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal...	ORPHA:79445
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Multiple cafe-au-lait spot...	ORPHA:2316
Weill-Marchesani Syndrome 3	Ectopia lentis, Joint stiffness, Microspherophakia, Shallow anterior chamber, Brachydactyly	OMIM:614819
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ...	ORPHA:978
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Radioulnar synostosis, Iris co...	ORPHA:921
Acromesomelic Dysplasia 4	Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me...	OMIM:619636
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Widow's peak, Brachydactyly	OMIM:266265
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Corneal ...	ORPHA:1647
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe...	OMIM:608940
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elbow flexion contracture, Corneal scarr...	OMIM:148210
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Brushfield spots, Hypopigmented skin patches, Anonychia, Abn...	ORPHA:1784
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, Cubitus valgus, High anteri...	ORPHA:247768
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Clinodactyly, Frontal upsweep of hair, Synophrys	OMIM:300997
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Failure...	OMIM:242150
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Abnormality of the elbow...	ORPHA:2701
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hyperkeratosis with erythema, Knee flexion contracture, Epiphyseal sti...	OMIM:118650
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ...	OMIM:277440
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Decreased body weight...	OMIM:619420
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Incontinentia Pigmenti	Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormal...	ORPHA:464
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossification, Short cla...	OMIM:614592
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Sti...	OMIM:236500
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Joint stiffness, Bone cyst	ORPHA:2047
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Corneal opacity, Recurrent fractures, Micrognathia, Thickened s...	OMIM:601812
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Multiple joint contractures, Small for gestational age, Cataract, Micrognat...	ORPHA:2959
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Finger joint ...	OMIM:615225
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis	ORPHA:1028
Breath-Holding Spells	Pallor	OMIM:607578
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Sy...	OMIM:620072
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Cataract, Absent eyel...	ORPHA:90153
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ...	OMIM:620070
Spinocerebellar Ataxia, Autosomal Recessive 20	Brachydactyly, Talipes equinovarus, Camptodactyly, Clinodactyly, Hypertrichosis	OMIM:616354
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Temtamy Syndrome	Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia lentis, Hip dislocation, Short 2nd to...	OMIM:218340
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Clinodactyly, Short palm	ORPHA:73273
Macs Syndrome	Joint laxity, Alopecia, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Osteoporos...	OMIM:613075
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Club-shaped proximal femur, Metaphyseal dappling, Hypoplasia of the odontoid process, Hypoplastic...	OMIM:184250
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Limitation of ...	ORPHA:1801
Kleefstra Syndrome 2	Kyphosis, Scoliosis, Thick eyebrow	OMIM:617768
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Ichthyosis, O...	OMIM:607626
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Distichiasis, Scoliosis	ORPHA:2598
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Cataract, Small for gestational age, Rocker bottom foot, Coxa valga, Micrognat...	OMIM:214150
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Small n...	OMIM:250410
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippli...	OMIM:302960
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Scoliosis	ORPHA:505652
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chond...	ORPHA:163966
Omenn Syndrome	Alopecia, Thickened skin, Short toe, Abnormal metaphysis morphology, Failure to thrive, Aplasia/H...	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypert...	OMIM:612379
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Hypoplastic fingernail, Hypoplastic toenails, Hypoplastic fifth fingernail, Symphalangism affecti...	ORPHA:1292
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy	OMIM:616029
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Abs...	ORPHA:158687
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Short palm, Brachydactyly, Abnormal thumb morphology, Abnormal finger morphology, Cone-shaped epi...	ORPHA:2511
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae	ORPHA:231111
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Abnormality of the elbow, Fl...	ORPHA:263463
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Microcornea, Clinodactyly of the...	OMIM:201000
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, Sparse hair, Juvenile cataract, Short phalanx of finger, Hypopig...	ORPHA:221016
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short foot, ...	OMIM:614376
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration, Scoliosis	ORPHA:79320
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Portal hypertension, Pericardial effusion, Dry skin, Hypertension, Increased...	OMIM:619487
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Abnormal pelvi...	ORPHA:1427
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Sparse hair, Juvenile cataract, Hypopigmentation of the skin, Sh...	ORPHA:221008
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Limitation of joint mobility, Micromelia, Coxa vara	ORPHA:168555
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Pallor	OMIM:500007
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cataract, Supernumerary nipple, Ca...	ORPHA:217346
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili...	OMIM:611717
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Hyperkeratosis, Aplasia/Hypoplasia of the eyebrow, Bre...	ORPHA:238468
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly	OMIM:300928
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis	OMIM:617443
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Aredyld Syndrome	Craniofacial hyperostosis, Cachexia, Abnormal pelvic girdle bone morphology, Sparse body hair, Ap...	ORPHA:1133
Lymphedema-Hypoparathyroidism Syndrome	Cataract, Hypertrichosis, Increased carrying angle, Brachydactyly	OMIM:247410
Rudiger Syndrome	Death in infancy, Single transverse palmar crease, Flexion contracture, High axial triradius, Sho...	OMIM:268650
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Megalocornea, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hirsutism, Decrea...	ORPHA:313855
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Abnormal hair whorl, Small nail, Clinodactyly, Failure to thrive, Shor...	OMIM:614261
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Micrognathia, Abnor...	ORPHA:90154
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Micrognathia, Flexion contracture, Progressive ...	OMIM:608612
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Corneal dystrophy, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Bra...	OMIM:617763
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Flexion contracture, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail d...	OMIM:226600
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, Long eyelashes, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Ankylosis, Thickened skin, Osteolysis, Palmoplantar ker...	ORPHA:659
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Non-Distal Deletion 10Q	Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single t...	ORPHA:1581
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Restrictive Dermopathy	Decreased fetal movement, Premature birth, Dextrocardia, Polyhydramnios, Premature delivery becau...	ORPHA:1662
Lamellar Ichthyosis	Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Failure to thrive, Micrognathia	OMIM:300934
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Small for gestational age, Rocker bottom foot, Highly arched eyebrow,...	OMIM:618804
Xylt1-Cdg	Joint laxity, Coxa valga, Synophrys, Flared metaphysis, Truncal obesity, Short long bone, Short f...	ORPHA:370930
Boudin-Mortier Syndrome	Long toe, Mallet finger, Joint laxity, Arachnodactyly, Long fingers, Pseudoepiphyses of the proxi...	OMIM:619543
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Highly arc...	ORPHA:1001
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Small for gestational age, Down-sloping shoulders, Deviation of the 5th toe, Microg...	ORPHA:391408
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Localized Junctional Epidermolysis Bullosa	Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro...	ORPHA:251393
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Abnormality...	ORPHA:1806
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly, Cataract	OMIM:183800
Hall-Riggs Syndrome	Metaphyseal dysplasia, Failure to thrive, Osteoporosis, Brachydactyly	OMIM:234250
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Joint stiffness, Synophrys, Hypopigmented skin patches, Genu valgum, Aplastic/hypo...	ORPHA:1295
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as...	ORPHA:1597
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Sparse scalp hair, Alopecia, Down-sloping shoulders, Coxa valga, Joint stiffness, Mic...	OMIM:248370
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Acromicria, Small hand, Obesity, Short foot, Clinodactyly	ORPHA:254525
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contracture, Low anterior hairl...	OMIM:300232
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern...	ORPHA:254528
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Cataract, Micromelia, Elbow dislocatio...	ORPHA:3258
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Arachnodactyly, Decreased palmar creases, Limit...	OMIM:108145
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis...	ORPHA:999
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar creas...	OMIM:305400
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab...	ORPHA:3099
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, Sagi...	OMIM:614099
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Single transverse palmar crease, Overweight, Flexion contracture, Frontal upsweep of hair, Promin...	ORPHA:391372
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Synophrys, Small hand, Short foot, Long eyelashes, Short palm, Genera...	ORPHA:238750
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Sandhoff Disease	Kyphosis, Cherry red spot of the macula	ORPHA:796
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Frontal balding, Metatarsus adductus, Early balding, Sho...	ORPHA:3041
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy...	ORPHA:2655
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Mandibuloacral Dysplasia	Alopecia, Micrognathia, Acanthosis nigricans, Abnormality of skin pigmentation, Contractures of t...	ORPHA:2457
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Short thumb, Synophrys, Dislocated radial h...	ORPHA:401935
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Thickened skin, Osteolysis, Abnormal metacarpal morphol...	ORPHA:137834
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda...	OMIM:618659
Naxos Disease	Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Sparse hair, Ic...	OMIM:615508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata...	OMIM:235510
Insulin-Like Growth Factor I, Resistance To	Sparse scalp hair, Rieger anomaly, Sandal gap, Highly arched eyebrow, Micrognathia, Synophrys, Sm...	OMIM:270450
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Scarring alopecia of scalp, Ectopia pupillae, ...	OMIM:618727
Inverted Duplicated Chromosome 15 Syndrome	Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Joint hypermo...	ORPHA:3306
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Corneal dystrophy, Abnormality of the hand, Thickened skin, Abnor...	ORPHA:3194
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Donohue Syndrome	Hypermelanotic macule, Acanthosis nigricans, Hyperkeratosis, Large hands, Nail dysplasia, Severe ...	OMIM:246200
Noonan Syndrome 13	Joint laxity, Overlapping toe, Highly arched eyebrow, Tapered finger, Metatarsus adductus, Microg...	OMIM:619087
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Long eyelashes, Clinodactyly	OMIM:618577
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol...	OMIM:616295
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
2Q31.1 Microdeletion Syndrome	Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, ...	ORPHA:251014
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Postaxial hand polydactyly, Coarse hair, Nail dystrophy	ORPHA:75389
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Cousin Syndrome	Micrognathia, Low anterior hairline, Prominent protruding coccyx, Microcornea, Hypoplastic iliac ...	OMIM:260660
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Congenital Varicella Syndrome	Cataract, Micromelia	ORPHA:291
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, S...	ORPHA:53271
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Pigmentary retinopathy, Scoliosis	OMIM:618234
Lowry-Wood Syndrome	Small for gestational age, Squared iliac bones, Elbow flexion contracture, Hip dislocation, Pigme...	OMIM:226960
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metaca...	OMIM:108720
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Beaking of vertebral bodie...	OMIM:252930
Marinesco-Sjögren Syndrome	Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal f...	ORPHA:559
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Long eyelashes, Clinodactyly	OMIM:618089
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M...	ORPHA:2557
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Obesity, Osteoporosis, Subcutaneous ossi...	OMIM:103580
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail	OMIM:313420
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Trichorhinophalangeal Syndrome Type 2	Sparse scalp hair, Bilateral single transverse palmar creases, Avascular necrosis of the capital ...	ORPHA:502
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar crease, Tapered finger, Mic...	OMIM:617061
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol...	OMIM:615726
Monosomy 18P	Alopecia, Micrognathia, Low posterior hairline, Brachydactyly	ORPHA:1598
Hemoglobin D Disease	Pallor	ORPHA:90039
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration	OMIM:249270
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur...	ORPHA:36412
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, 11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia,...	OMIM:201170
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Rhizomelia, Abnormality of the nail, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Acanthosis nigricans, Red hair, Failure to thrive, Hypopigmentation of the skin, Childho...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Acanthosis nigricans, Red hair, Failure to thrive, Hypopigmentation of the skin, Childho...	ORPHA:71526
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Low anterior hairline, Long eyelashes, Sparse hair, Clinodactyly, Fa...	OMIM:617883
Borjeson-Forssman-Lehmann Syndrome	Cataract, Tapered finger, Short toe, Truncal obesity, Joint hyperflexibility, Sparse hair, Abnorm...	ORPHA:127
Neu-Laxova Syndrome 1	Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia...	OMIM:256520
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Limited elbow movement, Joint s...	OMIM:614008
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,...	ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Rod-cone dystrophy, Low anterior hairline, Retinal dystrophy	ORPHA:261222
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Craniosynostosis, Elbow dis...	ORPHA:93329
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short foot, Hammer...	OMIM:275900
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Abnormal hair pattern, Highl...	ORPHA:2083
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Flexion contracture, Short foot, Large hands, Patchy alopecia, Talipes equinovarus,...	OMIM:300534
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Thi...	OMIM:614800
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge...	OMIM:618529
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Scapular winging, Single transverse palmar crease, Micromelia, M...	OMIM:618870
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Mulchandani-Bhoj-Conlin Syndrome	Hypermelanotic macule, 2-3 toe syndactyly, Cafe-au-lait spot, Clinodactyly, Failure to thrive	OMIM:617352
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Short distal phalanx of finger	ORPHA:1858
Chilblain Lupus	Hyperkeratosis, Finger swelling	ORPHA:90280
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration, Increased vertebral height, Low anterior hairline, Thoracolumbar kyphosis, ...	OMIM:248500
Cono-Spondylar Dysplasia	Short humerus, Epiphyseal dysplasia, Short nail, Cone-shaped epiphyses of the phalanges of the ha...	ORPHA:420794
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hyperlordosis, Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Hypopla...	ORPHA:73223
Odontochondrodysplasia	Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ...	ORPHA:166272
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Low anterior hairline, Arthrogryposis-like hand anomaly, Fro...	ORPHA:369891
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card...	ORPHA:26793
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Cataract, Iliac ...	ORPHA:168549
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Kid Syndrome	Equinus calcaneus, Scarring alopecia of scalp, Patellar hypoplasia, Knee flexion contracture, Con...	ORPHA:477
Evans Syndrome	Pallor, Syncope, Epistaxis, Petechiae	ORPHA:1959
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Toe syndactyly, Broad hallux, Unilateral breast hypoplasia, ...	OMIM:304110
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Swan neck-like deformities of the fingers, Synophrys, Ulnar deviated club hands, C...	OMIM:619880
Osteoglosphonic Dysplasia	Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Abnormal bone ossificat...	ORPHA:2645
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Abnormal hair pattern, Small hand, Coarse ha...	ORPHA:1786
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Noonan Syndrome 8	Curly hair, Large for gestational age, Hyperkeratosis, Palmoplantar cutis laxa, Failure to thrive...	OMIM:615355
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Braddock-Carey Syndrome 1	Curly hair, Small hand, Talipes equinovarus, Camptodactyly, Sparse hair, Clinodactyly	OMIM:619980
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasi...	OMIM:602875
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Rin2 Syndrome	Sparse scalp hair, Hirsutism, Increased susceptibility to fractures, Joint hypermobility, Brachyd...	ORPHA:217335
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Hypopigmented skin patches, Coxa vara, Fine hair, Multiple cafe-au-lait spots, Trunca...	ORPHA:2637
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Bartsocas-Papas Syndrome 1	Micrognathia, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Sy...	OMIM:263650
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta	ORPHA:2983
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies	OMIM:600972
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility	ORPHA:1035
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Pde4D Haploinsufficiency Syndrome	Joint laxity, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper li...	ORPHA:439822
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Kyphoscoliosis, Follicular hyperkeratosis	ORPHA:300179
Temple Syndrome	Small for gestational age, Micrognathia, Overweight, Flexion contracture, Small hand, Obesity, Sh...	OMIM:616222
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Small for gestational age, Iliac crest serration, Micromelia, Wide distal femor...	OMIM:613320
Larsen Syndrome	Finger syndactyly, Short nail, Craniosynostosis, Accessory carpal bones, Joint hyperflexibility, ...	ORPHA:503
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Gorlin Syndrome	Vertebral fusion, Cataract, Arachnodactyly, Palmar pits, Melanocytic nevus, Iris coloboma, Brachy...	ORPHA:377
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of h...	ORPHA:90354
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Cataract, Short distal phalanx of finger	ORPHA:1914
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Pycnodysostosis	Ridged nail, Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Overweight, ...	ORPHA:763
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Brittle hair, Joint stiffness, Short long bone, Astigmati...	OMIM:619184
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb...	ORPHA:1452
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Werner Syndrome	Low back pain, Alopecia of scalp, Retinal degeneration	OMIM:277700
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Optic atrophy, Scoliosis	ORPHA:99014
Laron Syndrome	Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Truncal obesity, Brachydactyly	ORPHA:633
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Tapered finger, Absen...	ORPHA:544488
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo...	OMIM:618265
Thanatophoric Dysplasia Type 2	Micromelia, Limitation of joint mobility, Joint hyperflexibility, Acanthosis nigricans, Abnormal ...	ORPHA:93274
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Syndactyly, Clinodactyly, Hirsutism	OMIM:618087
Coffin-Siris Syndrome 7	Sparse scalp hair, Sagittal craniosynostosis, Hypoplastic fifth toenail, Clinodactyly of the 5th ...	OMIM:618027
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Sparse hair, Clinod...	ORPHA:2636
Hypophosphatasia, Infantile	Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to f...	OMIM:241500
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Nuclear cataract, Nail dysplasia, Trichodysplasia, Ar...	OMIM:601701
Al-Raqad Syndrome	Joint laxity, Hypopigmentation of the skin, Sandal gap, Brachydactyly	OMIM:616459
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Ichthyosis, Failure...	OMIM:610768
Abcd Syndrome	White eyelashes, White eyebrow, Albinism	OMIM:600501
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation	OMIM:164180
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl...	OMIM:600002
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture	OMIM:619091
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Smith-Magenis Syndrome	Synophrys, Broad palm, Increased body weight, Short palm, Abnormal forearm morphology, Brachydactyly	OMIM:182290
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Generalized hypertricho...	ORPHA:50810
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Synophrys...	ORPHA:3219
Distal Deletion 10Q	Scapular winging, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, ...	ORPHA:96148
Lipoid Proteinosis	Hyperkeratosis, Thickened skin, Alopecia of scalp	ORPHA:530
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Recurrent fractures, Micromelia, Joint hyperflexibility, Decreased calvarial ossification	ORPHA:2772
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Thick eyebrow, Congenital hip dislocation, Cataract, Joint hypermobility, Tapered fin...	OMIM:616007
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Early balding, Hypopigment...	ORPHA:2067
Focal Dermal Hypoplasia	Finger syndactyly, Alopecia, Toe syndactyly, Corneal opacity, Abnormal palmar dermatoglyphics, Ca...	ORPHA:2092
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Osteopenia, Alopecia, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus ...	ORPHA:536532
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Cryptorchidism, Uncombable hai...	ORPHA:3082
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Abnormality of hair texture, Spa...	ORPHA:2108
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Obesity, Short phala...	OMIM:600430
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal hair pattern, Large hands, Broad thumb, Brac...	ORPHA:1770
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Failure to thrive in infancy, Gener...	ORPHA:1340
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Curly hair, Sparse scalp hair, Joint laxity, Large for gestational age, Hyperkerat...	OMIM:607721
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Abnormality of the...	ORPHA:2804
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Frontal upsweep of hair, Scoliosis, Cryptorchidism	OMIM:619797
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Sézary Syndrome	Irregular hyperpigmentation, Alopecia, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Delayed puberty...	ORPHA:77259
Radio-Tartaglia Syndrome	Thick eyebrow, Highly arched eyebrow, Tapered finger, Long eyebrows, Micrognathia, Synophrys, Low...	OMIM:619312
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Recurrent fractures, Osteolysis, Ichthyosis...	ORPHA:168569
Gm1 Gangliosidosis	Corneal opacity, Camptodactyly of finger, Joint stiffness, Thickened skin, Weight loss, Abnormal ...	ORPHA:354
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Thickened skin, Scleroderma, Loss of eyelashes, Osteolysis,...	OMIM:263700
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypopigmentation of the skin, Iris hyp...	ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Optic atrophy	OMIM:618237
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro...	OMIM:612813
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy	OMIM:616353
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Toe syndactyly, Thick eyebrow, Single transverse palmar crease, Proxi...	OMIM:610759
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Microgna...	ORPHA:233
Squalene Synthase Deficiency	Failure to thrive in infancy, Micrognathia, Elbow flexion contracture, 2-3 toe syndactyly, Abnorm...	OMIM:618156
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Buphthalmos, Limb undergrowth, Joint contracture, Failure to thrive,...	OMIM:618005
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Developmental cataract, Abnormality of the frontal hairline, Short 5th fin...	ORPHA:557003
Down Syndrome	Joint laxity, Cataract, Sandal gap, Bilateral single transverse palmar creases, Obesity, Sparse h...	ORPHA:870
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Joint hypermobility, Micrognathia, Reduced bon...	OMIM:617052
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Joint stiffness, Sparse eyebrow, Micrognathia, Reticular hy...	OMIM:604173
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi...	OMIM:602557
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Keutel Syndrome	Alopecia, Short distal phalanx of finger	ORPHA:85202
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Osteoglophonic Dysplasia	Osteopenia, Hypoplastic toenails, Short metatarsal, Short palm, Short phalanx of finger, Broad me...	OMIM:166250
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Cryptorchidism, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal st...	OMIM:301900
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Optic disc pallor, Retinal degeneration	ORPHA:79264
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Kyphosis, Long eyelashes, Scoliosis	ORPHA:48431
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Small for gestational age, Micrognathia, Long hallux, Clinodactyly, Fa...	OMIM:620194
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Chime Syndrome	Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat...	ORPHA:3474
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ...	OMIM:607095
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Distal joint laxity, Flexion contracture, Hip dislocation, Hyperextensibility at wr...	OMIM:254090
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Oculofaciocardiodental Syndrome	Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, Broad palm, 2-3 toe syndactyly, Gen...	ORPHA:2712
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Brachydactyly, Microretrognathia, Overlapping toe, Rocker bottom f...	ORPHA:488642
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t...	OMIM:613195
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Slow-growing hair, Proximal p...	ORPHA:1896
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Sandal gap, Small hand, Short foot, Abdominal obesity, Brachydactyly	OMIM:300354
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Abnormal eyebrow morphology, Small hypothenar eminence, Alopecia, Sparse facial hair,...	ORPHA:2232
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clino...	ORPHA:1445
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Optic atrophy, Scoliosis	OMIM:610743
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Failure to thrive in infancy, Short proximal phalanx of...	ORPHA:261323
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Obesity, Bilateral breast hypoplasia, Hip dysplas...	ORPHA:319675
Adnp Syndrome	Joint laxity, Sparse scalp hair, Juvenile cataract, Broad hallux, Single transverse palmar crease...	ORPHA:404448
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Trisomy 9P	Hypoplastic fingernail, Bilateral single transverse palmar creases, Hypoplastic toenails, Abnorma...	ORPHA:236
Mycetoma	Osteomyelitis, Abnormality of the hand, Bone cyst, Osteoporosis, Abnormal forearm bone morphology...	ORPHA:2583
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis	ORPHA:83453
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular...	OMIM:158310
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Becker Nevus Syndrome	Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta	ORPHA:64755
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Coarse hair, ...	ORPHA:955
Jansen-De Vries Syndrome	Short foot, Small hand, Small nail, Brachydactyly	OMIM:617450
Mcdonough Syndrome	Kyphosis, Synophrys, Scoliosis, Cryptorchidism	ORPHA:2471
Smith-Magenis Syndrome	Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Micrognathia, Synophrys, Obesity, ...	ORPHA:819
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Squared iliac bones, Hypoplastic ...	ORPHA:2746
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Juvenile cataract, Micrognathia, Brachydactyly	ORPHA:436245
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Sparse eyelashes, Cataract, Fifth finger distal phalanx clinodactyly, Micrognat...	OMIM:257850
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Cataract, Postaxial polydactyly, Postaxial h...	OMIM:209900
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Osteoporosis, Increased body weight, Hirsutism	OMIM:615830
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hai...	OMIM:115150
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c...	ORPHA:79474
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Palmoplantar hyperkeratosis...	OMIM:615280
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Gracile Bone Dysplasia	Death in infancy, Failure to thrive, Flared metaphysis, Slender long bone, Aniridia, Decreased sk...	OMIM:602361
Ane Syndrome	Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Hyperpigmented nevi, Hyperpig...	ORPHA:157954
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Short toe, Gingival hyperkeratosis, Limb undergrowth, Sho...	OMIM:225410
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, H...	ORPHA:192
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no...	OMIM:256500
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Cataract, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:1458
Ring Chromosome 12 Syndrome	Syndactyly, Small for gestational age, Abnormal 5th finger morphology, Dystrophic toenail, Sympha...	ORPHA:1439
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiff...	ORPHA:585
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Chops Syndrome	Curly hair, Cataract, Thick hair, Synophrys, Obesity, Coarse hair, Long eyelashes, Tracheomalacia...	OMIM:616368
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Pediatric Systemic Lupus Erythematosus	Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Cataract, Joint stiffness, Sparse eyebrow, Fine hair, Sparse hair...	OMIM:617988
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Rocker bottom foot, Tapered finger, Finger clinodactyly, Long eyelashes, Camptodactyly,...	OMIM:601353
Cardioacrofacial Dysplasia 1	Limb undergrowth, Nail dysplasia, Postaxial polydactyly, Genu valgum	OMIM:619142
Achondroplasia	Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, B...	OMIM:100800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec...	OMIM:617306
X-Linked Agammaglobulinemia	Alopecia, Osteomyelitis, Hypopigmented skin patches, Weight loss, Arthritis, Conjunctivitis, Fail...	ORPHA:47
Achondrogenesis Type 1A	Recurrent fractures, Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Shor...	ORPHA:93299
Myhre Syndrome	Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Thickened skin, Short toe, 2-3 toe syndact...	OMIM:139210
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy	OMIM:620089
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Brittle Cornea Syndrome 1	Keratoconus, Joint laxity, Congenital hip dislocation, Red hair, Keratoglobus, Abnormal cornea mo...	OMIM:229200
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Acanthosis nigricans, Truncal obesity, Sparse hair, Limb undergrowth, Clinodactyly	OMIM:616541
Clark-Baraitser Syndrome	Clinodactyly, Sandal gap, Obesity	OMIM:617752
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Hypoplasia of the iris, Nail dysplasia, Short phalanx of finger, Br...	OMIM:600092
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Mosaic Trisomy 16	Ventricular septal defect, Premature birth, Large placenta, Abnormal heart morphology, Single umb...	ORPHA:1708
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Avascular necrosis of the capital femoral epiphysis, Reticulated skin pigmentation, Ost...	OMIM:613990
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Recurrent fractu...	ORPHA:1775
Alstrom Syndrome	Alopecia, Abnormality of the hand, Truncal obesity, Hyperostosis frontalis interna, Pigmentary re...	OMIM:203800
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short metatarsal, Obesity, Osteoporosis, Brachydactyly	OMIM:612462
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Thin bony cortex, Cataract, Joint stiffness, Lens luxation, Thick...	OMIM:608328
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrhage, Ecchymosis, Ple...	ORPHA:464329
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Nail dysplasia, Camptodactyly, Limb undergrow...	ORPHA:79322
Frontorhiny	Cataract, Camptodactyly of finger, Widow's peak, Hypoplastic frontal sinuses, Finger clinodactyly...	ORPHA:391474
Pitt-Hopkins Syndrome	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	OMIM:610954
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, 2-3 toe syndactyly, P...	OMIM:106260
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor	OMIM:266200
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Kabuki Syndrome 2	Joint laxity, Highly arched eyebrow, Micrognathia, Hip dislocation, Short 5th finger, Long eyelas...	OMIM:300867
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar...	OMIM:609053
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Camptodactyly of finger, Interphalangeal joint con...	ORPHA:610
Zimmermann-Laband Syndrome	Hallux valgus, Generalized hyperpigmentation, Cataract, Joint hypermobility, Micrognathia, Deep p...	ORPHA:3473
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Acanthosis nigricans, Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Sparse hair, Joint laxity, Rhizomelia, Thin nail, Sagittal crani...	OMIM:218330
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Clinodactyly, Flexion contracture, Single transverse palmar c...	ORPHA:178148
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, Retinal deg...	OMIM:607014
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, 2-3 toe syndactyly...	OMIM:614701
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Pallor, Diffuse alveolar hemorrhage, Cardiomegaly	ORPHA:99931
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Micrognathia, Small hand, Obesity, Short foot, Truncal obesity, Clinod...	ORPHA:96184
Weill-Marchesani Syndrome 1	Thin bony cortex, Cataract, Joint stiffness, Ectopia lentis, Thickened skin, Microspherophakia, B...	OMIM:277600
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Adducted thumb	ORPHA:412057
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Hyperpigmentation of the skin, ...	ORPHA:177907
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Prader-Willi Syndrome	Osteopenia, Syndactyly, Hypopigmentation of hair, Failure to thrive in infancy, Acromicria, Small...	OMIM:176270
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Low posterior hairline, Hypoplas...	ORPHA:2916
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Adams-Oliver Syndrome 6	Hypoplastic toenails, Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Short stature, Polyhydramnios, Large placenta, A...	OMIM:222470
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val...	OMIM:615630
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Short Stature-Micrognathia Syndrome	Joint laxity, Cataract, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal wid...	OMIM:617164
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization	ORPHA:404451
Martsolf Syndrome 1	Joint laxity, Short metacarpal, Cataract, Micrognathia, Metatarsus adductus, Slender ulna, Short ...	OMIM:212720
Orofaciodigital Syndrome Type 1	Finger syndactyly, Alopecia, Brittle hair, Tarsal synostosis, Micrognathia, Preaxial hand polydac...	ORPHA:2750
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, ...	ORPHA:2163
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p...	ORPHA:794
Chromomycosis	Keratitis, Ankylosis, Hyperparakeratosis, Hypopigmented skin patches, Osteolysis, Hyperkeratosis,...	ORPHA:182
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Brachydactyly	ORPHA:776
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Edema	OMIM:617822
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Thick eyebrow, Scoliosis, Highly arched eyebrow	OMIM:615834
Alg8-Cdg	Cataract, Small for gestational age, Talipes equinovarus, Camptodactyly, Failure to thrive, Brach...	ORPHA:79325
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Micrognathia, Short long bone, Talipes equinovaru...	OMIM:224410
Nail-Patella Syndrome	Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplas...	OMIM:161200
Achondrogenesis Type 1B	Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Talipes equinovarus	ORPHA:93298
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Pallor, Lymphedema	ORPHA:3226
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vasculitis, End...	ORPHA:781
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido...	ORPHA:1974
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Chondrodysplasia Punctata 1, X-Linked Recessive	Ichthyosis, Epiphyseal stippling, Cataract, Short distal phalanx of finger	OMIM:302950
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contrac...	OMIM:618914
Ollier Disease	Abnormal metaphysis morphology, Osteolysis, Micromelia, Joint stiffness	ORPHA:296
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared m...	ORPHA:93352
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Alopecia, Craniosynostosis	OMIM:601853
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Retinal degeneration, Cry...	ORPHA:33364
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Atrichia, Periungual erythema, Death in childhood, Neonatal death, Dystr...	OMIM:308205
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hyperpigmentation of the skin, Corneal opacity, Craniosynostosis, Depigmentation/hyperp...	ORPHA:79396
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Kyphosis, Angioid streaks of the fundus, Retinopathy, Retinal degeneration	OMIM:239000
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Arachnodactyly, White hair, Ocular albinism, Reduced bone mineral density, Abnormal hip...	ORPHA:2720
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Cherry red spot of the macula, Bea...	OMIM:230500
White-Sutton Syndrome	Joint laxity, Brachydactyly, Micrognathia, Obesity, Hypoplastic cervical vertebrae, Astigmatism, ...	OMIM:616364
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Talipes equinovarus, Camptodactyly, Facial hypertrichosis, Clinodactyly, Brachydactyly	ORPHA:397709
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ...	ORPHA:3453
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality...	OMIM:212065
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ...	ORPHA:33226
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion con...	OMIM:618162
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Sandal gap, Obesity, Brachydactyly	ORPHA:2180
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus	ORPHA:77300
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ...	ORPHA:175
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve...	OMIM:618143
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Highly arched eyebrow,...	OMIM:608156
Hutchinson-Gilford Progeria Syndrome	Alopecia, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ...	OMIM:160980
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Micrognathia, Prea...	ORPHA:261318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Post...	OMIM:271510
Oculodentodigital Dysplasia	Dry hair, Cataract, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hair, Microco...	OMIM:164200
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Small for...	OMIM:616229
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,...	OMIM:618019
Pseudoaminopterin Syndrome	Sparse scalp hair, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow...	ORPHA:221120
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Decrea...	OMIM:612394
Coffin-Siris Syndrome 6	Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypoplastic toenails, Drumstick terminal phalanges, Death in childhood, Failure to thrive, Brachy...	OMIM:612938
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,...	ORPHA:95699
Achondrogenesis	Micrognathia, Abnormality of bone mineral density, Micromelia, Abnormal enchondral ossification	ORPHA:932
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Clinodactyly, Astigmatism, Death in childhood	OMIM:620316
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Retinal degeneratio...	OMIM:618479
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly	ORPHA:251046
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Microcornea, Wrist flexion contractur...	ORPHA:800
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Hyperkeratosis, Hip dysplasia, Failure to thrive	OMIM:614576
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Congenital ichthyosiform erythroderma, Congenital...	OMIM:616395
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Single transverse palmar crease, Small for gestational age, Craniosynostosis, Microgn...	OMIM:614114
Sponastrime Dysplasia	Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax...	ORPHA:93357
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Kyphosis, Scoliosis, Short neck	OMIM:611890
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Nail dystrophy	OMIM:614204
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites	ORPHA:2905
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Arthrogryposis, Distal, Type 4	Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis	OMIM:609128
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Brachydactyly	OMIM:603233
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Al Kaissi Syndrome	Synophrys, Small hand, Deep palmar crease, Decreased body weight, Clinodactyly	OMIM:617694
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dystrophic ...	OMIM:150400
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Long fingers, Flexion contracture, Limb undergrowth, Frontal hirsutism	OMIM:608149
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Chronic irritative conjunctivitis, Sparse ey...	ORPHA:69085
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t...	ORPHA:198
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Cataract, Femoral retroversion, Micromelia	ORPHA:79107
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis, Highly arched eyebrow, Cryptorchidism	ORPHA:352490
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Corneal erosion, Weight loss, Con...	ORPHA:37
Distal Deletion 19P	Long toe, Alopecia, Arachnodactyly, Joint hyperflexibility, Thick eyebrow	ORPHA:96129
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Mucolipidosis Iii Alpha/Beta	Retinal degeneration, Retinopathy, Scoliosis	OMIM:252600
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Darier-White Disease	Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Subungual hyperkeratotic fragments	OMIM:124200
Hsd10 Disease, Infantile Type	Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:391428
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion	OMIM:613011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Scoliosis	OMIM:615249
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Supernume...	ORPHA:397715
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hair, Axillary apocri...	OMIM:181450
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Abnormality of the hand,...	ORPHA:319182
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal social behavior...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal social behavior...	ORPHA:363958
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Abnormal fingernail morphology, Micrognathia,...	ORPHA:989
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Obesity, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Short neck, Lattice retinal degeneration, ...	ORPHA:485
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Thickened skin, Ocular albinism, Weight los...	ORPHA:79430
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Cataract, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal st...	OMIM:222765
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Obesity, Shoulder girdle muscle weakness, Congenital nonbullous ichthyosiform erythrode...	ORPHA:98907
Glutamine Deficiency, Congenital	Neonatal death, Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Spinocerebellar Ataxia 47	Clinodactyly, Small hand, Tapered finger	OMIM:617931
Stickler Syndrome, Type I	Retinal detachment, Kyphosis, Platyspondyly, Vitreoretinopathy, Membranous vitreous appearance, R...	OMIM:108300
Mohr Syndrome	Syndactyly, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysi...	OMIM:252100
Micro Syndrome	Abnormality of retinal pigmentation, Kyphosis, Cryptorchidism, Optic atrophy, Retinal coloboma, S...	ORPHA:2510
Neu-Laxova Syndrome	Osteopenia, Cataract, Osteomalacia, Micromelia, Micrognathia, Abnormal eyelash morphology, Abnorm...	ORPHA:2671
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Thick eyebrow, Corneal opacity, Synophrys, Osteoporosis, 2-3 toe syn...	ORPHA:488632
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing o...	ORPHA:1318
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Elbow...	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 57	Brachydactyly, Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th fin...	OMIM:618050
Autoimmune Lymphoproliferative Syndrome, Type Iii	Arthritis, Alopecia	OMIM:615559
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent eyebrow, Al...	ORPHA:2273
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Failure to thrive, Brachydactyly	OMIM:618048
Holocarboxylase Synthetase Deficiency	Alopecia, Keratoconjunctivitis, Weight loss	ORPHA:79242
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Small for gestational age, Single transverse palmar crease	ORPHA:79243
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Scoliosis, Follicular hyperkeratosis	OMIM:617066
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Highly arched eyebrow, Hypoplastic fifth fingernail, Long eyelashes, Hypoplast...	OMIM:615866
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Epiphyseal dysplasia, Death in infancy, Single transverse palmar crease, C...	OMIM:617425
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Hypertension, Intrauterine gr...	OMIM:615846
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Micrognathia, Central Y-shaped metacarp...	ORPHA:2754
Kagami-Ogata Syndrome	Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios	ORPHA:254519
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Joint hypermobility, Micrognathia	OMIM:618282
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Talipes equinovaru...	OMIM:619124
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Fibrochondrogenesis	Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaph...	ORPHA:2021
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, B...	OMIM:619244
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Sepsis In Premature Infants	Tachycardia, Premature birth, Edema, Pallor, Hypotension, Bradycardia, Caesarian section, Petechi...	ORPHA:90051
Ellis Van Creveld Syndrome	Abnormal hair quantity, Abnormal fingernail morphology, Micromelia, Abnormal hair morphology, Cap...	ORPHA:289
Ramon Syndrome	Optic disc pallor, Kyphosis, Pigmentary retinopathy, Scoliosis, Hypertrichosis	OMIM:266270
Ataxia-Telangiectasia	Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Multiple cafe-au-lait sp...	ORPHA:100
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormality of hair texture...	ORPHA:96169
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Short Syndrome	Joint laxity, Enlarged epiphyses, Rieger anomaly, Cataract, Small for gestational age, Micrognath...	OMIM:269880
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Coronal craniosynostosis, Fine hair	ORPHA:228390
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal,...	OMIM:170390
Alg9-Cdg	Thickened nuchal skin fold, Decreased fetal movement, Tricuspid regurgitation, Ventricular septal...	ORPHA:79328
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha...	OMIM:616331
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital hip dislocation, Osteopathia stri...	OMIM:305600
Primary Myelofibrosis	Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Long eyelashes, Broad lateral eyebrow, Brachydactyly	OMIM:608624
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Sialidosis Type 1	Hyperkeratosis, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Proximal placement of thumb, Sclerocornea, Postaxial foot polydactyl...	ORPHA:139471
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
3C Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Micrognathia, Missing ribs, Hand polydactyly,...	ORPHA:7
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Osteomyelitis, Nail bed telangiectasi...	ORPHA:90291
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Flexion contracture, Low anterior hairline, Developmental cataract, Mi...	OMIM:614225
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Overlapping toe, Single transverse palmar crease, Sparse ey...	ORPHA:464738
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Pallor, Delayed puberty	OMIM:600462
Ifap Syndrome 2	Ichthyosis follicularis, Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichi...	OMIM:619016
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Hyp...	OMIM:269860
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of...	OMIM:143095
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Dravet Syndrome	Pallor	ORPHA:33069
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Bowed humerus, Tarsal sy...	OMIM:272460
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Clinodactyly, Ectrodactyly, Iris coloboma	OMIM:147950
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Thick eyebrow	OMIM:300280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Toe syndactyly, Sparse eyelashes, Hypoplastic sacrum, Sparse axillary hair, Sp...	OMIM:604292
Verheij Syndrome	Joint laxity, Vertebral fusion, Small for gestational age, Hip dislocation, Short 5th finger, Cli...	OMIM:615583
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Raine Syndrome	Death in infancy, Bowing of the long bones, Increased bone mineral density, Highly arched eyebrow...	OMIM:259775
Kapur-Toriello Syndrome	Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Low posterior ha...	OMIM:244300
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Noonan Syndrome 14	Curly hair, Scapular winging, Sparse eyebrow, Low posterior hairline, Deep palmar crease, Sparse ...	OMIM:619745
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Kleefstra Syndrome 1	Single transverse palmar crease, Synophrys, Obesity, Talipes equinovarus, Tracheobronchomalacia, ...	OMIM:610253
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Hypermelanotic macule...	ORPHA:910
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Scoliosis	OMIM:177850
Joubert Syndrome 6	Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma	OMIM:610688
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Optic atrophy, Optic disc pallor, Scoliosis	OMIM:609541
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met...	ORPHA:2751
Hemochromatosis, Type 1	Alopecia, Osteoporosis, Hyperpigmentation of the skin	OMIM:235200
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Synophrys, Micrognathia, Congenital contracture, Brachydactyly	OMIM:620156
Sialidosis Type 2	Kyphosis, Abnormal macular morphology	ORPHA:87876
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, ...	ORPHA:3107
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Hypoplastic toenails, Dystrophic toenail, Absent toenail	OMIM:616028
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Sparse eyebrow, Short thumb, High ant...	OMIM:300895
Pycnodysostosis	Ridged nail, Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinu...	OMIM:265800
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Pallor	ORPHA:75564
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the distal p...	ORPHA:364577
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Bicoronal synostosis, Brachydactyly	OMIM:604757
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the o...	OMIM:183900
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Abnormality of skin pigmentation, Na...	OMIM:620040
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Metaphyseal dysplasia, Micrognathia, Decreased body weight, Clinodactyly, Cafe-au-lai...	OMIM:618336
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Acanthosis nigricans, Abnormal toenail morphology,...	ORPHA:444077
Myelofibrosis	Pallor, Purpura	OMIM:254450
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis	OMIM:615577
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Thickened skin, Short foot,...	OMIM:617809
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,...	OMIM:275210
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Chitayat Syndrome	Hallux valgus, Tracheomalacia, Brachydactyly	OMIM:617180
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Mogs-Cdg	Alopecia, Long eyelashes, Overlapping fingers, Fair hair, Hirsutism	ORPHA:79330
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Micrognathia	OMIM:616367
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo...	ORPHA:1798
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Hyperkeratosis, Scoliosis, Webbed neck, Cafe-au-lait spot, Hyperpigme...	OMIM:616564
Cerebellofaciodental Syndrome	Cataract, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Shortening of all dist...	OMIM:616202
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Kinsship Syndrome	Osteopenia, Death in infancy, Single transverse palmar crease, Coxa valga, Micrognathia, Synophry...	OMIM:619297
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
19P13.3 Microduplication Syndrome	Micrognathia, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip sublu...	ORPHA:447980
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Retinal dystrophy, Scoliosis	ORPHA:464282
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Singleton-Merten Syndrome 2	Osteopenia, Hyperkeratosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Pallor	ORPHA:90033
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Limited elbow movement, Craniosynostosis, Micrognathia, Preaxial hand polydacty...	ORPHA:508533
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Supernumerary nipple, Tapered finger, Sparse eyebrow, Short thumb, Synophrys, ...	ORPHA:477993
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Metatarsus adductus, Small hand, Scapular muscle atrophy, Hip dysplasia, Talipe...	OMIM:181405
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly	OMIM:610644
Noonan Syndrome 2	Curly hair, Micrognathia, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar cu...	OMIM:605275
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail morphology, Micromelia, M...	ORPHA:1908
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Cryptorchidism	OMIM:618484
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Retinal atrophy, Retinal dystrophy, Kyphosis, Retinal hemorrhage, Pr...	ORPHA:90324
6Q Terminal Deletion Syndrome	Hallux valgus, Joint laxity, Aplasia/Hypoplasia of the ribs, Highly arched eyebrow, Micrognathia,...	ORPHA:75857
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Scoliosis, Follicular hyperkeratosis	ORPHA:486815
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Shashi-Pena Syndrome	Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervical C2/C3 vertebral f...	OMIM:617190
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Broad 2nd toe, Large for gestational age, Palmoplantar hyperkeratosis, Fin...	OMIM:280000
Opitz-Kaveggia Syndrome	Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Micrognat...	OMIM:305450
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Short fourth metatarsal, Ulnar deviation of the hand, Micrognathia, Hig...	OMIM:615546
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Short 2nd toe, Polydactyly, Radial deviation o...	OMIM:311200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Joint hypermobility, Highly arched eyebrow, Low posterior hairline, Camptodactyly, Cl...	OMIM:617360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Toe syndactyly, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse...	OMIM:129900
Congenital Dyserythropoietic Anemia Type Iii	Melena, Short stature, Pallor	ORPHA:98870
Knobloch Syndrome	Retinal detachment, Abnormal hair morphology, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Keratoconjunctivitis, Pigmentary retinopathy, Nail dystrophy, Alopecia univer...	OMIM:240300
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys...	OMIM:122470
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxation, Microphakia	ORPHA:171844
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Astigmatism, Obesity, Tapered finger	OMIM:619680
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Mucopolysaccharidosis Type 3	Thick hair, Retinal degeneration, Synophrys, Optic atrophy, Abnormal form of the vertebral bodies...	ORPHA:581
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milestone developm...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milestone developm...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milestone developm...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Delayed early-childhood social milestone developm...	ORPHA:881
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Shallow anterior chamber, ...	OMIM:230740
Localized Scleroderma	Abnormal skin adnexa morphology, Hyperpigmentation of the skin, Thickened skin, Flexion contractu...	ORPHA:90289
Johanson-Blizzard Syndrome	Death in infancy, Alopecia, Failure to thrive, Abnormal hair pattern	ORPHA:2315
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Hypopla...	ORPHA:93315
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s...	OMIM:208500
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Hypoplastic fingernail, Increased bone mineral density, Aplastic clavicle, Abn...	ORPHA:2658
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me...	OMIM:216340
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr...	OMIM:602531
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Alopecia o...	OMIM:602782
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Cataract, Sparse axillary hair, Sparse pubic hair, Thickened skin, 3-4 finger ...	OMIM:181270
Beta-Ketothiolase Deficiency	Edema, Dehydration, Hypertension, Pallor, Hypotension	ORPHA:134
Mgat2-Cdg	Osteopenia, Long eyelashes, Hypoplastic nipples, Failure to thrive, Hirsutism, Brachydactyly	ORPHA:79329
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ...	ORPHA:1765
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Loss of eyelashes, Hyperkeratosis, Iritis, Co...	ORPHA:548
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Arachnodactyly, Corneal opacity, Abnormal thumb morphology, L...	ORPHA:2719
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab...	ORPHA:2886
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Micrognathia, Synophrys, Cl...	OMIM:617062
Mixed Connective Tissue Disease	Alopecia, Joint stiffness, Osteolysis, Arthritis, Keratoconjunctivitis sicca, Scleroderma	ORPHA:809
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Cataract, Tarsal synostosis, Short hall...	ORPHA:90652
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho...	ORPHA:193
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Cataract, Short metatar...	ORPHA:79444
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, C1-C2 vertebral abnormality, Decreased response to growth hormone stimu...	ORPHA:96179
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Growth delay, Anemic pallor, Edema	ORPHA:329971
Dominant Beta-Thalassemia	High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D...	ORPHA:231226
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Failure to thrive, T...	OMIM:230600
Spondyloepiphyseal Dysplasia Congenita	Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, S...	ORPHA:94068
Spondyloocular Syndrome	Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Po...	OMIM:605822
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Rod-cone dy...	ORPHA:88628
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Cataract, Band keratopa...	ORPHA:79443
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Aceruloplasminemia	Abnormality of retinal pigmentation, Macular degeneration, Abnormal pancreas morphology, Retinal ...	ORPHA:48818
Three M Syndrome 2	Scapular winging, Small for gestational age, Slender long bone, Short 5th finger, Prominent calca...	OMIM:612921
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Hennekam Syndrome	Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax...	ORPHA:2136
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Craniosynostosis, Sparse eyebro...	ORPHA:1521
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Delayed puberty, Low-to-normal b...	ORPHA:358
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera...	ORPHA:79501
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Large for gestational age, Micrognathia, Flexion contracture, Ti...	ORPHA:96334
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Arthritis, Alopecia, Failure to thrive	OMIM:304790
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinoda...	ORPHA:306542
Milroy Disease	Hyperkeratosis, Toenail dysplasia	ORPHA:79452
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Aplasia/Hypoplasia of the nails, Camptodactyly, Clinodactyly of the 5th finger, Bra...	OMIM:619123
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Brachydactyly, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone...	OMIM:619479
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline	OMIM:314580
Sympathetic Ophthalmia	Papilledema, Alopecia, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retinal hemorrh...	ORPHA:79098
Cold Agglutinin Disease	Pallor	ORPHA:56425
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy...	OMIM:127550
Lymphatic Malformation 12	Neonatal death, Hyperkeratosis, Death in adolescence	OMIM:620014
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Hereditary Spherocytosis	Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Celiac Disease, Susceptibility To, 1	Alopecia, Osteoporosis, Rickets, Weight loss, Failure to thrive	OMIM:212750
Distal Xq28 Microduplication Syndrome	Metatarsus adductus, Clinodactyly, Cafe-au-lait spot, Aplasia/Hypoplasia of the eyebrow	ORPHA:293939
Aymé-Gripp Syndrome	Pericardial effusion, Pericarditis, Postnatal growth retardation, Short stature	ORPHA:1272
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Failure to thrive, Osteoporosis	ORPHA:2169
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Genu varum, Long toe, Absent eyebrow, Alopecia, Absent eyelash...	OMIM:264090
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Clinodactyly, Short phalanx o...	OMIM:616894
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi...	ORPHA:468699
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Partial duplication...	OMIM:618348
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Low posterior hai...	OMIM:620107
Trisomy 13	Abnormal eyelash morphology, Kyphosis, Abnormal retinal vascular morphology, Cryptorchidism, Opti...	ORPHA:3378
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Small hand, Obesity, Osteoporosis, Short foot, Abdominal ob...	ORPHA:398079
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryp...	ORPHA:3132
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thick eyebrow, Single transverse palmar crease, Synophrys, Obesity, Truncal obesity, Short palm, ...	ORPHA:466950
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Clinodactyly...	ORPHA:744
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B...	ORPHA:96097
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Sparse hair, Phocomelia, Wrist flexion c...	OMIM:268300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Tracheomalacia, Clinodactyly, ...	OMIM:217980
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of fing...	OMIM:266920
Refractory Anemia With Excess Blasts	Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema	ORPHA:86839
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Promine...	OMIM:612474
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Jacobsen Syndrome	Micrognathia, Abnormal eyelash morphology, Missing ribs, Flexion contracture, Microcornea, Clinod...	OMIM:147791
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Sclerocornea, Obesity, Aniridia, Camptoda...	ORPHA:251038
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Preaxial polydactyly, Radioulnar synostosis, Clinodactyly	OMIM:248340
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive, Flexion contracture, Death in infancy	OMIM:609180
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Broad nail, Hyperkeratosis, Abnormal toenail morphology, Abnormal...	ORPHA:1334
Fucosidosis	Kyphosis, Generalized hyperkeratosis, Abnormality of the nail, Anterior beaking of lumbar vertebrae	ORPHA:349
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypopigmentation of the skin, Iris hyp...	ORPHA:411511
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Chédiak-Higashi Syndrome	Pericardial effusion, Pleural effusion, Epistaxis, Edema	ORPHA:167
Gaucher Disease, Perinatal Lethal	Micrognathia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neona...	OMIM:608013
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism	OMIM:614076
Autoinflammation With Arthritis And Dyskeratosis	Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperkeratosis, Punctate kera...	OMIM:617388
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Retinal degeneration	OMIM:272200
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Bifid distal phal...	ORPHA:97360
Braddock-Carey Syndrome 2	Clinodactyly	OMIM:619981
Omenn Syndrome	Thickened skin, Alopecia	OMIM:603554
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contracture, Abnormality of ...	ORPHA:2908
Myhre Syndrome	Craniofacial hyperostosis, Cataract, Joint stiffness, Thickened skin, Abnormal epiphysis morpholo...	ORPHA:2588
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Hypopigmentation of the skin, ...	OMIM:620237
Floating-Harbor Syndrome	Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Clinodactyly, Astigmatism, Camptodactyly, Tapered finger	OMIM:619576
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Adrenoleukodystrophy	Alopecia, Hyperpigmentation of the skin	OMIM:300100
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Hypopigmentation of hair, Cataract, Rhizomelia, Proximal placement of thumb, M...	ORPHA:818
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Postaxial polydactyly, Trichiasis, Micrognathia, Corneal scarring, Buphtha...	OMIM:618460
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive	ORPHA:169154
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension	ORPHA:20
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Small for gestational age, Keratitis, Low anterior hairline, Broad palm, Long ey...	ORPHA:99843
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Carpenter Syndrome 2	Single transverse palmar crease, Preaxial polydactyly, Low anterior hairline, Coxa vara, Knee fle...	OMIM:614976
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer	ORPHA:231222
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Beta-Thalassemia Major	High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D...	ORPHA:231214
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration	ORPHA:168491
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse ey...	OMIM:613610
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Short neck, Kyphosis, Hypertrichosis	OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Osteoporosis, Increased body weight, Increased susceptibility to fractures, Abdominal o...	ORPHA:189427
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micr...	ORPHA:99776
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:98754
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Supernumerary nipple, Micrognathia, Shortening of all distal phalanges of ...	ORPHA:247262
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ...	OMIM:612852
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Micrognathia, Sparse eyebrow, Thin eyebrow, Radial deviation of finger, Clinodactyly	OMIM:609944
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyela...	OMIM:615877
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Acanthosis nigricans, Tibial bowing, Femoral bowing, Neonatal death, Mesomelia, Palmo...	OMIM:616482
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Retinal atrophy, Retinal dystrophy, Optic disc pal...	ORPHA:191
Noonan Syndrome	Abnormal hair quantity, Micrognathia, Low posterior hairline, Melanocytic nevus, Joint hyperflexi...	ORPHA:648
Ayme-Gripp Syndrome	Sparse scalp hair, Tapered finger, Developmental cataract, Radioulnar synostosis, Nail dystrophy,...	OMIM:601088
Hurler-Scheie Syndrome	Kyphosis, Scoliosis, Hirsutism	OMIM:607015
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Abnormal fingertip morphology, Paronychia, Osteoporosis, Anonychia, Abnormal cornea mor...	ORPHA:79404
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Premature birth, Short stature, Congestive heart f...	OMIM:105650
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Talipes equinovarus	OMIM:616789
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lai...	ORPHA:1969
Nephrotic Syndrome, Type 11	Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Micrognathia	OMIM:616730
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Limbal dermoid	OMIM:613001
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped...	ORPHA:3144
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Bone cyst, Deep palmar crease, Brachydactyly	ORPHA:1752
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Small for gestational age, Craniosynostosis, Tapered finger, Micrognathia, Flexi...	OMIM:309590
Dpagt1-Cdg	Arachnodactyly, Thickened skin, Flexion contracture, Osteoporosis, Developmental cataract, Astigm...	ORPHA:86309
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Symblepharon, Broad femoral neck, Small hand, Short foot, Thickened cortex of long bo...	ORPHA:488434
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:98793
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Breech presentation, Anencephaly, Single umbilical arter...	OMIM:249000
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, Kyphosis, Cryptorchidism, S...	ORPHA:261250
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Pilomatrixoma, Hammertoe, Micrognathia	OMIM:620189
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Down-sloping shoulders, Palmar pits, Irregular ossification of hand b...	OMIM:109400
You-Hoover-Fong Syndrome	Clinodactyly, Paroxysmal bursts of laughter, Brachydactyly	OMIM:616954
Mend Syndrome	Failure to thrive, Cataract, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe s...	ORPHA:401973
Leigh Syndrome	Alopecia, Multiple joint contractures, Cataract, Frontal hirsutism, Failure to thrive, Hypertrich...	ORPHA:506
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Microcor...	ORPHA:199
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Abnormal lumbar spine morphology	ORPHA:642
Meier-Gorlin Syndrome 5	Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bone...	OMIM:613805
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Highly arched eyebrow, Sparse eyebr...	OMIM:616737
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:177904
Cinca Syndrome	Reduced bone mineral density, Brachydactyly	ORPHA:1451
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Osteoporosi...	ORPHA:177901
Leprechaunism	Thickened skin, Acanthosis nigricans, Hyperkeratosis, Large hands, Decreased body weight, Facial ...	ORPHA:508
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Micrognathia, Sparse eyebrow, Low anterior hairline, Hypertricho...	OMIM:209885
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Biconcave vertebral bodies, Vertebral compression fracture, Hirsutism	OMIM:219090
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Small...	OMIM:180700
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Periventricular Nodular Heterotopia 9	Single transverse palmar crease, Tapered finger, Synophrys, Clinodactyly of the 5th finger, Promi...	OMIM:618918
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Failure to thrive in infancy, Single transverse palmar crease, Slender long bone, ...	OMIM:613385
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micrognathia, Sy...	ORPHA:536545
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Cryptorchidism, Scoliosis, Generalized hirsutism	ORPHA:254346
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Pathologic fracture, Osteomyelitis	ORPHA:36386
Schisis Association	Small for gestational age, Micromelia	ORPHA:63862
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Tay-Sachs Disease	Pallor	OMIM:272800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Hypopigmentation of hair, Obesity, Inappropriate laughter, Hypo...	ORPHA:98794
Fumarase Deficiency	Bilateral fetal pyelectasis, Polyhydramnios, Perimembranous ventricular septal defect, Pallor, As...	OMIM:606812
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Low anterior hairline	OMIM:619909
Schilbach-Rott Syndrome	Clinodactyly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Micrognathia	OMIM:164220
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Alopecia u...	ORPHA:363618
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Decreased testicular size, Cryptorchidism	OMIM:615433
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia,...	OMIM:601552
Cowden Syndrome	Cataract, Conjunctival hamartoma, Bone cyst, Hypopigmented skin patches, Melanocytic nevus, Palmo...	ORPHA:201
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Witteveen-Kolk Syndrome	Proximal placement of thumb, Clinodactyly, Anisocoria, Short palm, Clinodactyly of the 5th finger...	OMIM:613406
Classic Homocystinuria	Retinal detachment, Sparse scalp hair, Abnormality of retinal pigmentation, Kyphosis, Optic atrop...	ORPHA:394
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Supernumerary nipple, Sparse eyebrow, Kyphosis, Optic atrophy, Fine hair,...	ORPHA:261349
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Vitilig...	ORPHA:1855
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight loss, Decreas...	ORPHA:2298
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Cutaneous finger syndactyly, Tal...	OMIM:601390
Toriello-Lacassie-Droste Syndrome	Generalized hyperpigmentation, Abnormal conjunctiva morphology, Short palm, Limbal dermoid, Failu...	ORPHA:3339
Chromosome 1P36 Deletion Syndrome, Proximal	Micrognathia, Hirsutism, Camptodactyly, Clinodactyly, Failure to thrive, Broad eyebrow	OMIM:619343
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Craniosynostosis, Brachydactyly	ORPHA:457193
Giant Cell Arteritis	Arthritis, Alopecia, Joint stiffness, Weight loss	ORPHA:397
Acute Radiation Syndrome	Hyperkeratosis, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
19P13.13 Microdeletion Syndrome	Sandal gap, Long fingers, Long eyelashes, Clinodactyly, Cafe-au-lait spot	ORPHA:357001
Coffin-Siris Syndrome	Joint laxity, Sparse scalp hair, Thick eyebrow, Hypoplastic fifth fingernail, Prominent eyelashes...	ORPHA:1465
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Scoliosis	OMIM:300602
Elliptocytosis 1	Pallor	OMIM:611804
Mend Syndrome	Microretrognathia, Cataract, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe s...	OMIM:300960
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Small for gestational age, Micrognathia, Clinodacty...	ORPHA:96182
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Flexion contracture, Small hand, Increased body weight, Ost...	ORPHA:398069
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Short palm	ORPHA:3217
Meester-Loeys Syndrome	Arachnodactyly, Hypertrichosis, Broad distal phalanx of finger, Camptodactyly, Joint contracture,...	OMIM:300989
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Optic atrophy, Platyspondyly, Long eyelashes	OMIM:618476
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly	OMIM:603585
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Reactive Arthritis	Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis, Hyperkeratosis, Conjunctiviti...	ORPHA:29207
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Low p...	ORPHA:2789
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Polydactyly, Spars...	OMIM:619869
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Nail dystrophy, Abnormality of the periungua...	ORPHA:293978
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Scoliosis	ORPHA:404440
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Cockayne Syndrome A	Dry hair, Retinal atrophy, Kyphosis, Cryptorchidism, Retinal pigment epithelial mottling, Optic a...	OMIM:216400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Hypoplastic fingernail, Proportionate shortening of all digits, Tapered finger...	ORPHA:280633
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Short nail, Micromelia, Microcornea, Deep palmar crease, Astigmatism, Long ...	ORPHA:1675
X-Linked Intellectual Disability, Cabezas Type	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Scoliosis, Decreased testicular size	ORPHA:85293
Senior-Loken Syndrome 8	Pancreatic cysts, Rod-cone dystrophy, Retinal dystrophy, Macular atrophy	OMIM:616307
Beckwith-Wiedemann Syndrome	Premature birth, Redundant skin, Polyhydramnios, Cardiomegaly, Large placenta, Subchorionic septa...	ORPHA:116
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow	OMIM:618443
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Psoriasiform dermatitis, Alopecia universalis	OMIM:606367
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, ...	ORPHA:51608
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of...	ORPHA:740
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Congenital Myopathy 17	Overlapping toe, Failure to thrive in infancy, Tapered finger, Distal arthrogryposis, Hand clench...	OMIM:618975
Cowden Syndrome 5	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter	OMIM:615108
Immunodeficiency 7	Failure to thrive, Patchy alopecia, Vitiligo	OMIM:615387
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Obesity, Astigmatism, Sparse hair, Cubitus valgus, Frontal hi...	OMIM:617157
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Highly arched eyebrow, Kyphosis, Cryptorchidism, Scoliosis	OMIM:619951
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent f...	ORPHA:565
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration, Scoliosis	ORPHA:2822
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop...	ORPHA:892
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Cryptorchidism, Abnormal form of t...	ORPHA:2311
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali...	OMIM:614077
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Pallor, Hypotension	ORPHA:98849
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Keratoconus, Congenital hip dislocation, Arachnodactyly, Protrusio acet...	OMIM:225400
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Small nail, Brachydactyly	OMIM:100300
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive	OMIM:210210
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Micrognathia, Aplasia/hypoplasia involving bones of th...	ORPHA:96176
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Pelizaeus-Merzbacher Disease	Kyphosis, Optic atrophy, Scoliosis	ORPHA:702
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, Failure to thri...	ORPHA:158668
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova...	ORPHA:1358
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Reticulated skin pigmentation, Pte...	OMIM:305000
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachydactyly	OMIM:619995
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Conjunctivitis, Clin...	OMIM:615560
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Coarse hair, Scoliosis, Biconcave vertebr...	OMIM:130720
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Ma...	OMIM:214500
Developmental And Epileptic Encephalopathy 100	Hypoplastic fingernail, Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, S...	OMIM:619777
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Small hand, Osteoporosis, Increased susceptibility to fract...	ORPHA:739
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Synophrys, Obesity, Astigmatism, Short palm, Brachydactyly	ORPHA:466943
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis	OMIM:620351
C Syndrome	Death in infancy, Toe syndactyly, Failure to thrive in infancy, Micromelia, Abnormal hair pattern...	ORPHA:1308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Bone cyst, Ost...	ORPHA:2396
Letterer-Siwe Disease	Pallor	OMIM:246400
Imerslund-Gräsbeck Syndrome	Tachycardia, Pallor	ORPHA:35858
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Cowden Syndrome 6	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Ovarian cyst, Scoliosis, Goiter	OMIM:615109
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M...	ORPHA:3206
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Patchy alopecia, Hemiatrophy, Melanocytic nevus	ORPHA:2874
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Cataract, Thin nail, Coxa valga, Hypoplastic iliac wing, Long fingers, ...	OMIM:617561
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Bohring-Opitz Syndrome	Retinal atrophy, Synophrys, Optic atrophy, Cholelithiasis, Annular pancreas, Hypertrichosis	ORPHA:97297
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Highly arched eyebrow, Tapered finger, Synophrys, Small hand, L...	OMIM:301044
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Arboleda-Tham Syndrome	Microretrognathia, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Highly arche...	OMIM:616268
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Increased corneal thickness, Duplication of thumb ...	ORPHA:2363
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of the ...	ORPHA:847
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ...	ORPHA:87
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Irregular hyperpigmentati...	ORPHA:428
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5...	ORPHA:1587
Prolactinoma	Pallor, Hypotension, Delayed puberty	ORPHA:2965
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Kyphosis, Scoliosis	OMIM:616449
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Brachydactyly	ORPHA:2075
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, Co...	ORPHA:83617
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Cataract, Camptodactyly of finger, Joint stiffness...	ORPHA:1606
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Cataract, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Multiple joint contract...	ORPHA:464306
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Iris hypopigmentation, Abnormality of hair texture, Kyphosis, Cr...	OMIM:610443
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Cdags Syndrome	Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Kyphosis	OMIM:603116
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc...	OMIM:300966
Autosomal Recessive Spastic Paraplegia Type 20	Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgum, Clinod...	ORPHA:101000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret...	ORPHA:79282
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Turnpenny-Fry Syndrome	Sparse scalp hair, Overlapping toe, Tapered finger, Long fingers, Small hand, Prominent interphal...	OMIM:618371
Desmosterolosis	Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis, Fai...	ORPHA:35107
Down Syndrome	Joint laxity, Sandal gap, Single transverse palmar crease, Brushfield spots, Hypoplastic iliac wi...	OMIM:190685
Degcags Syndrome	Tachycardia, Ventricular septal defect, Premature birth, Polyhydramnios, Echogenic fetal bowel, B...	OMIM:619488
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Abnormal femur morphol...	ORPHA:324
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Linear Nevus Sebaceus Syndrome	Alopecia, Iris coloboma, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2612
Orthostatic Hypotension 1	Joint hypermobility, Brachydactyly	OMIM:223360
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Flexion contracture, Genu valgum, Abdominal obesity, Generalized hypopigmentation	OMIM:619321
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, Platyspondyly, Vitreoreti...	OMIM:259770
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Flexion contracture, H...	OMIM:601803
Juvenile Dermatomyositis	Arthritis, Alopecia, Limitation of joint mobility, Weight loss	ORPHA:93672
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Growth delay, Pallor, Absence of stomach bubble on fet...	ORPHA:1199
Craniofacioskeletal Syndrome	Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinodactyly of th...	OMIM:300712
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis	ORPHA:98863
Harrod Syndrome	Kyphosis, Hypopigmented skin patches, Scoliosis, Cryptorchidism	ORPHA:2115
Noonan Syndrome 1	Failure to thrive in infancy, Micrognathia, Woolly hair, Synovitis, Low posterior hairline, Radia...	OMIM:163950
Hydrolethalus	Postaxial hand polydactyly, Micromelia, Micrognathia	ORPHA:2189
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Nail dystrophy	ORPHA:37042
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Microphthalmia, Lenz Type	Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc coloboma, Chorioretinal coloboma, Scoliosis	ORPHA:568
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Synophrys, Scoliosis	OMIM:619557
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Biotinidase Deficiency	Alopecia, Conjunctivitis	OMIM:253260
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Kyphoscoliosis, ...	OMIM:602535
Holoprosencephaly	Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Joint hyperflexibility, Hand poly...	ORPHA:2162
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter, Th...	OMIM:162300
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri...	ORPHA:666
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract, Brachydactyly	ORPHA:168577
Gaucher Disease, Type I	Vertebral compression fracture, Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Pearson Marrow-Pancreas Syndrome	Pallor, Erythema, Hydrops fetalis, Dehydration	OMIM:557000
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Hyperkeratosis, High anterior hairline	OMIM:615510
Infection-Related Hemolytic Uremic Syndrome	Edema, Myocarditis, Hypertension, Pleural empyema, Pallor, Hypertensive crisis, Generalized edema	ORPHA:544482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Retin...	OMIM:236670
Cowden Syndrome 1	Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scoli...	OMIM:158350
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Cli...	OMIM:619539
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Optic atrophy, Hirsutism	OMIM:617527
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hyperpigmentation of the skin, Hirsutism	ORPHA:90795
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Highly arched eyebrow, Short toe, Widow's peak, Clinodactyly of the 5th finger...	ORPHA:1519
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Optic atrophy, Hirsutism	ORPHA:521426
Osteogenesis Imperfecta, Type Vii	Osteopenia, Death in infancy, Crumpled long bones, Rhizomelia, Recurrent fractures, Femoral retro...	OMIM:610682
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail	OMIM:258850
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis	ORPHA:64745
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature	OMIM:227645
Aregenerative Anemia	Pallor	ORPHA:101096
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Papilledema, Abnormality of retinal pigmentation, Abnormal fove...	ORPHA:580
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Cryptorchidism, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis, Ridged finger...	ORPHA:2215
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:261
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Postaxial hand polydactyly, Micromelia, Thickened skin	OMIM:200995
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98853
Joubert Syndrome 1	Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly, Highly arched eyebrow	OMIM:213300
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
8Q24.3 Microdeletion Syndrome	Long toe, Joint laxity, Microretrognathia, Short femur, Small for gestational age, Single transve...	ORPHA:508488
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis, Cryptorchidism	OMIM:615381
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Highly arched eyebrow, Sparse eyebr...	ORPHA:487796
Toriello-Carey Syndrome	Sparse eyebrow, Clinodactyly, Micrognathia, Brachydactyly	ORPHA:3338
Chronic Graft Versus Host Disease	Alopecia, Thickened skin, Flexion contracture, Weight loss, Abnormality of skin pigmentation, Art...	ORPHA:99921
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Cockayne Syndrome Type 2	Kyphosis, Hypermelanotic macule, Scoliosis, Cryptorchidism	ORPHA:90322
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Keratitis, Conjunctivitis, Bilateral coxa valga	OMIM:278800
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis	ORPHA:582
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Cataract, Camptodactyly of finger, Metatarsus adductus, Synophrys, Obesity, Sho...	OMIM:607872
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Alopecia, Keratoconjunctivitis sicca, Rheumatoid arthritis, Vitiligo	ORPHA:227990
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Short stature, Abnormal heart morphology, G...	ORPHA:124
Elsahy-Waters Syndrome	Cataract, Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervica...	OMIM:211380
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl...	OMIM:253010
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Kypho...	ORPHA:636
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Failure to thrive in infancy, Camptodactyly	ORPHA:228426
Warburg-Cinotti Syndrome	Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha...	OMIM:618175
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Clinodactyly, Abnormal number of hair whorls	OMIM:618164
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Alopecia, Keratoconjunctivitis sicca, Rheumatoid arthritis, Vitiligo	ORPHA:227982
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis	OMIM:248800
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Pallister-Hall Syndrome	Large for gestational age, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyl...	ORPHA:672
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Cataract, Overlapping toe, Micromelia, Proximal placement of...	OMIM:270400
Relapsing Polychondritis	Alopecia, Cataract, Keratitis, Limitation of joint mobility, Arthritis, Conjunctivitis	ORPHA:728
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature, Abnormal heart morphology	OMIM:600901
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
Biotinidase Deficiency	Alopecia, Conjunctivitis	ORPHA:79241
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,...	ORPHA:67036
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Pgm3-Cdg	Failure to thrive, Osteomyelitis, Brachydactyly	ORPHA:443811
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ...	OMIM:300942
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Coxa valga, Tapered finger, Absent frontal sinuses, Talipes equinovarus, Radial deviation of fing...	OMIM:301040
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature, Abnormal heart morphology	OMIM:227650
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pulmonary arterial hypertension, Pallor, Abnormal pulmonary valve morphology	ORPHA:667
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Broad hallux, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Hypop...	OMIM:620186
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Kyphosis, Scoliosis, Cryptorchidism	OMIM:617602
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:364028
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Hypoplastic toenails, Preax...	ORPHA:2753
Wolf-Hirschhorn Syndrome	Sacral dimple, Highly arched eyebrow, Kyphosis, Cryptorchidism, Optic atrophy, Abnormal form of t...	ORPHA:280
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
Cystinosis, Nephropathic	Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial mottling, Meta...	OMIM:219800
Emanuel Syndrome	Kyphosis, Sacral dimple, Scoliosis, Cryptorchidism	OMIM:609029
Marden-Walker Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Short neck	OMIM:248700
Vici Syndrome	Hypopigmentation of hair, Macular atrophy, Albinism, Ocular albinism, Macular hypoplasia, Hypopig...	OMIM:242840
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Optic atrophy, Scoliosis	OMIM:618493
Atelis Syndrome 2	Clinodactyly, Developmental cataract, Single transverse palmar crease, Micrognathia	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration	OMIM:253280
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Depigmentation/hyperpigmentati...	ORPHA:1724
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Microcornea, Talipes equinovarus, Follicular hyperkeratosis	OMIM:614557
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Corneal opacity, Micromelia, Micrognathia, Cataract, Short toe, Short...	ORPHA:709
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Retinal degeneration, Optic atrophy, Hyperpigmentation of the skin	OMIM:234200
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Steinert Myotonic Dystrophy	Alopecia, Early balding, Posterior subcapsular cataract, Shoulder girdle muscle weakness, Astigma...	ORPHA:273
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Avascular necrosis ...	ORPHA:2044
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Synophrys, Scoliosis	ORPHA:476126
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, K...	OMIM:606170
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Adrenal hyperplasia, Macronodular adrenal hyperplasia	OMIM:219080
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Short foot, Fused cervical vertebrae, Fusion of middle ear ossic...	OMIM:157800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v...	ORPHA:3042
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Kyphosis, Cryptorchidism, Optic atrophy, Abnormality of skin ...	OMIM:133540
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Distichiasis	OMIM:153400
Multiple Endocrine Neoplasia Type 2	Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma	ORPHA:653
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Cryptorchidism, Fused cervical vertebrae, Hypoplas...	OMIM:265000
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Colchicine Poisoning	Alopecia	ORPHA:31824
Viss Syndrome	Long toe, Sparse scalp hair, Alopecia, Joint laxity, Arachnodactyly, Rocker bottom foot, Joint hy...	OMIM:619472
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Chromosome 14Q11-Q22 Deletion Syndrome	Failure to thrive, Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Thick eyebrow, Abnormal form of the vertebral bodies	ORPHA:2769
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos...	OMIM:610168
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology	ORPHA:94147
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Behcet Syndrome	Arthritis, Hypopyon, Patchy alopecia, Iritis	OMIM:109650
Hemihyperplasia-Multiple Lipomatosis Syndrome	2-4 toe syndactyly, Hyperparakeratosis, Foot polydactyly, Macrodactyly	ORPHA:276280
Charge Syndrome	Highly arched eyebrow, Abnormal tibia morphology, Bifid femur, Abnormality of bone mineral densit...	ORPHA:138
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Hypoplasia of the thymus, Uncombable hair, Woolly hair, C...	ORPHA:84064
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Kyphosis, Cryptorchidism, Long eyelashes, Scoliosis	OMIM:619005
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs	OMIM:616546
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia, ...	ORPHA:464311
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Fanconi Anemia, Complementation Group D2	Anemic pallor, Short stature, Abnormal heart morphology	OMIM:227646
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Monosomy 9Q22.3	Ovarian fibroma, Short neck, Kyphosis, Abnormality of the vertebral column, Retinopathy	ORPHA:77301
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Zttk Syndrome	Curly hair, Absent gallbladder, Sparse eyebrow, Kyphosis, Hemivertebrae, Optic atrophy, Scoliosis...	OMIM:617140
Somatomammotropinoma	Generalized hyperpigmentation, Abnormal fingernail morphology, Elevated circulating growth hormon...	ORPHA:314769
Craniosynostosis And Dental Anomalies	Hallux valgus, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndactyly, Coronal craniosynosto...	OMIM:614188
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Ovarian cyst	OMIM:610475
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Short neck, Kyphosis, Cryptorchidism, Scoliosis, High anterior hairline	OMIM:619194
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tapered finger, Micrognathia, Paroxysmal bursts of laughter, Obesity, Genu valgum, Talipes equino...	OMIM:309580
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Mucolipidosis Type Ii	Kyphosis, Dry hair, White hair, Fine hair	ORPHA:576
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Sarcoidosis	Alopecia, Cataract, Bone cyst, Weight loss, Abnormal conjunctiva morphology, Keratoconjunctivitis...	ORPHA:797
Triosephosphate Isomerase Deficiency	Kyphosis, Cholelithiasis, Optic disc pallor	OMIM:615512
Meige Disease	Cobblestone-like hyperkeratosis	ORPHA:90186
Bloom Syndrome	Small for gestational age, Sparse eyelashes, Micrognathia, Paronychia, Abdominal obesity, Patchy ...	ORPHA:125
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Cryptorchidism, Patchy hypo- and hyperpigmen...	ORPHA:3063
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Optic atrophy, Abnormal retinal morphology, Secondary hyperparathyroidism	ORPHA:2785
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:2479
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Clinodactyly, Failure to thrive, Broad thumb, Single transverse palmar crease	OMIM:612541
Distal Triplication 15Q	Hydrocele testis, Kyphosis, Scoliosis	ORPHA:314588
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Absent eyebrow, Kyphosis, Thin fingernail	ORPHA:85199
Acromegaly	Generalized hyperpigmentation, Abnormal fingernail morphology, Elevated circulating growth hormon...	ORPHA:963
Occipital Horn Syndrome	Kyphosis, Coarse hair, Pili torti, Platyspondyly	OMIM:304150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormal optic chiasm morphology, Sacral dimple, Retinal detachment, Decreased response to growth...	ORPHA:268261
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract, Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnorm...	ORPHA:93271
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Congenital hip dislocation, Abnormality of hair texture, Abnormal eyelash ...	ORPHA:286
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Scoliosis, Cryptorchidism	ORPHA:500055
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Branchiooculofacial Syndrome	Supernumerary nipple, Short neck, Hyperlordosis, Kyphosis, Cryptorchidism, Low posterior hairline...	OMIM:113620
Alexander Disease	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Hyperpigmented nevi	ORPHA:58
Lymphatic Filariasis	Hyperkeratosis, Hyperpigmentation of the skin	ORPHA:2035
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
African Trypanosomiasis	Alopecia, Miscarriage, Keratitis, Weight loss, Conjunctivitis, Iritis	ORPHA:3385
Systemic Lupus Erythematosus	Arthritis, Alopecia	ORPHA:536
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Melanocytic nevus	OMIM:616914
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Optic atrophy	OMIM:619708
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hyperparathyroidism, Chorioretinal dysplasia, Kyphosis, Cryptorchidism, Fine h...	ORPHA:534
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Broad eyebrow	ORPHA:457359
Kikuchi-Fujimoto Disease	Alopecia, Weight loss	ORPHA:50918
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Sacral dimple, Kyphosis, Hypoplastic fifth fingernail, Cryptorchidis...	OMIM:135900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Obesity, Impaired social interactions, Brachydactyly	ORPHA:293987
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis, Cryptorchidism	OMIM:619718
Coffin-Lowry Syndrome	Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis...	OMIM:303600
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Thick eyebrow, Kyphosis, Synophrys, Abnormal curvature of the vertebral column, Melano...	OMIM:619475
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Cafe-au-lai...	OMIM:249420
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Pmm2-Cdg	Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc...	ORPHA:79318
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the vertebral column, Scoliosis, Optic ner...	ORPHA:1328
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Optic atrophy	ORPHA:171629
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Stickler Syndrome	Retinal detachment, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:828
Wrinkly Skin Syndrome	Short nail, Kyphosis, Cryptorchidism, Scoliosis, Sparse hair, Fragile nails	OMIM:278250
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Marfan Syndrome	Retinal detachment, Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Highly arched eyebrow, Kyphosis, Cryptorchidism, Abnormal form o...	OMIM:194190
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
17Q11 Microdeletion Syndrome	Hypermelanotic macule, Retinal vascular proliferation, Kyphosis, Abnormality of the vertebral col...	ORPHA:97685
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Kyphosis, Synophrys, Cryptorchid...	OMIM:259050
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcornea, Short clavicles...	OMIM:309800
Aspartylglucosaminuria	Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, Beaking of vertebral bodies, S...	OMIM:208400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis	OMIM:300967
Williams Syndrome	Sacral dimple, Abnormal fingernail morphology, Hyperlordosis, Hypoplastic toenails, Kyphosis, Cry...	ORPHA:904
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Thoracic scoliosis, Retinal pigment epithelial atroph...	ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Sotos Syndrome	Sacrococcygeal teratoma, Hypopigmentation of the skin, Sparse anterior scalp hair, Kyphosis, Cryp...	ORPHA:821
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis, Cryptorchidism	OMIM:309000

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.

There is no histopathology data for Nsdhl

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 Nsdhl.

No publications found that use IMPC mice or data for Nsdhl.

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MGI Allele	Allele Type	Produced
Nsdhl^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nsdhl^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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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