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Gene: Zdhhc21 MGI:1915518

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

zinc finger, DHHC domain containing 21

Synonyms:

dep, D130004H04Rik, 9130404H11Rik

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 Zdhhc21 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 Zdhhc21 (0 diseases)
Human diseases predicted to be associated with Zdhhc21 (582 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zdhhc21 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Aredyld	Generalized hypotrichosis	OMIM:207780
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti	OMIM:607903
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Ectodermal Dysplasia, Trichoodontoonychial Type	Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,...	ORPHA:1818
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmoplantar keratoderma, Fi...	ORPHA:2251
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Cafe-au...	OMIM:618625
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Dystrophic fingernails, Absent toenail	OMIM:614927
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Freckling, Pili torti	ORPHA:1573
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis	OMIM:613576
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
L-Ferritin Deficiency	Alopecia	OMIM:615604
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse...	OMIM:604536
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder...	ORPHA:34217
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of...	ORPHA:90368
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk...	OMIM:602400
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Palmoplantar keratoderma, S...	OMIM:618535
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
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohidrosis, Dystroph...	ORPHA:1882
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst...	ORPHA:79402
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula...	OMIM:613102
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ...	ORPHA:1433
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair	OMIM:275400
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok...	OMIM:614594
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int...	OMIM:262000
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Sparse hair, Spar...	ORPHA:1810
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Toenai...	ORPHA:1660
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Palmoplantar keratoderma, Nail dystroph...	ORPHA:2890
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Sparse hair	ORPHA:1264
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes	ORPHA:3363
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili to...	OMIM:301845
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis	ORPHA:181
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hy...	ORPHA:140936
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi...	OMIM:167210
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Sparse body hair	ORPHA:1897
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair...	OMIM:615821
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair	OMIM:614940
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Gand Syndrome	Sparse hair	OMIM:615074
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Proliferating Trichilemmal Cyst	Sparse scalp hair	ORPHA:492
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Nail dystrophy, Sparse hair	ORPHA:100976
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,...	ORPHA:1807
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On...	ORPHA:1028
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e...	OMIM:257980
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Hyperpigmentation of the skin	ORPHA:50812
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Cafe-au...	OMIM:615280
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Hyperkeratosis, Hypo...	ORPHA:1806
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis	OMIM:615279
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair, Periorbital hyperpigment...	OMIM:224900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Palmoplantar hype...	ORPHA:659
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy	OMIM:616353
Obesity And Hypopigmentation	Red hair	OMIM:620195
Acrogeria	Irregular hyperpigmentation, Fine hair	ORPHA:2500
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkerato...	OMIM:613707
Lamellar Ichthyosis	Sparse hair, Hyperkeratosis, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow	ORPHA:313
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Leopard Syndrome 2	Curly hair, Cafe-au-lait spot, Multiple lentigines	OMIM:611554
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair	ORPHA:3051
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Noonan Syndrome 6	Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait...	OMIM:613224
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair	ORPHA:3447
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,...	ORPHA:3353
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal...	OMIM:150400
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hair	ORPHA:2316
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Thick eyebrow	OMIM:611091
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Hypohidrosis	ORPHA:884
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hair	OMIM:607626
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic...	ORPHA:3253
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Congenital Ichthyosiform Erythroderma	Alopecia, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Melanocytic nevus, Hypoplastic ...	ORPHA:978
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Pigmentary retinopathy	OMIM:268020
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow	OMIM:256500
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails	OMIM:242150
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, Small nail...	OMIM:601675
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Hawkinsinuria	Sparse hair	OMIM:140350
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Irregul...	ORPHA:634
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Palmoplantar ke...	ORPHA:1010
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Palmopla...	ORPHA:678
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity	ORPHA:1745
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e...	ORPHA:1071
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Complex Regional Pain Syndrome	Abnormality of hair growth, Slow-growing nails	ORPHA:83452
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline	OMIM:617883
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin...	OMIM:268130
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline	ORPHA:284180
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch...	OMIM:158310
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Noonan Syndrome 8	Hyperkeratosis, Curly hair, Hyperpigmentation of the skin	OMIM:615355
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Palmoplantar keratoderma, Orthokeratosis, Acantholysis	OMIM:615508
Noonan Syndrome 5	Curly hair, Sparse eyebrow, Fine hair, Multiple lentigines, Small nail, Cafe-au-lait spot	OMIM:611553
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ...	ORPHA:79431
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy, Hypohidrosis	ORPHA:98813
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Tonne-Kalscheuer Syndrome	Concave nail, Blue irides, Small nail, Fine hair	OMIM:300978
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Retinal pigment epithelial mottling	OMIM:614105
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N...	ORPHA:79151
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Joubert Syndrome 37	Sparse hair	OMIM:619185
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e...	OMIM:305100
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Trichotillomania	Alopecia	OMIM:613229
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Concave nail, Abno...	ORPHA:3071
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Brittle hair, Abnormality of hair texture	OMIM:219200
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the sweat glands, Sparse hair	OMIM:612132
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline, Cafe-au-lait spot	OMIM:250410
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia	OMIM:613990
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair	OMIM:613451
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy...	OMIM:127550
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Mottled pigmentation	OMIM:608612
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair	OMIM:619745
Noonan Syndrome 7	Hyperhidrosis, Curly hair, Low posterior hairline	OMIM:613706
Mandibuloacral Dysplasia	Sparse hair, Abnormality of skin pigmentation, Alopecia, Hypoplastic fingernail	ORPHA:2457
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Abnormal eyelash morphology, Low ...	ORPHA:1340
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Ectodermal Dysplasia-Skin Fragility Syndrome	Hypohidrosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, A...	ORPHA:158668
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Smith-Kingsmore Syndrome	Curly hair, Cafe-au-lait spot	OMIM:616638
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair	OMIM:219150
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow	ORPHA:585
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Short Syndrome	Sparse hair, Alopecia	ORPHA:3163
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Short nail, Fine hair	OMIM:614099
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Hyperkeratosis, Loose anagen hair, Long eyelashes, Multiple lentig...	OMIM:607721
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow	OMIM:613026
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples...	OMIM:103285
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Hypohidrosis, Aplastic/hypoplastic toenail, Fine hair, Aplasia/Hypoplasia o...	ORPHA:1812
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis	ORPHA:560
Macrocephaly/Autism Syndrome	Coarse hair	OMIM:605309
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Fine hair	OMIM:614800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Mongolian blue spot, Dry hair, Low anterior hairline	OMIM:618569
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmen...	ORPHA:2909
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline, Blue irides	OMIM:610733
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid...	OMIM:115150
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow	OMIM:613075
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis	ORPHA:363618
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Trichilemmoma, Palmop...	ORPHA:477
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n...	OMIM:222470
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow	OMIM:616368
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Hypomelanotic macule, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia...	OMIM:617052
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Absent axillary hair, Sparse axillary hair, Absent pubic hair	ORPHA:99429
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:228300
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Palmoplan...	ORPHA:2710
Isolated Follicle Stimulating Hormone Deficiency	Sparse pubic hair, Sparse axillary hair, Bilateral breast hypoplasia	ORPHA:52901
Scalp-Ear-Nipple Syndrome	Sparse hair, Abnormal fingernail morphology, Breast aplasia, Hypohidrosis	ORPHA:2036
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:268400
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Forehead hyperpigmentation	OMIM:607812
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:616564
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism	OMIM:617303
Diamond-Blackfan Anemia 21	Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak	OMIM:620072
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hypohidrosis, Hyperkeratosis, Coarse hai...	ORPHA:1896
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline	OMIM:617360
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Cafe-au-lait spot, Hyperpigme...	OMIM:605275
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Monosomy 22	Sparse hair, Synophrys, Hyperhidrosis	ORPHA:96123
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Down Syndrome	Sparse hair	ORPHA:870
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Chand Syndrome	Curly hair, Nail dysplasia, Hypohidrosis	ORPHA:1401
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Hypoplastic sweat glan...	ORPHA:73223
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Cafe-au-lait spot	OMIM:614114
Schimke Immunoosseous Dysplasia	Coarse hair, Hypermelanotic macule, Fine hair	OMIM:242900
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Weaver Syndrome	Deep-set nails, Thin nail, Melanocytic nevus, Fine hair, Sparse hair	OMIM:277590
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Sparse or absent eyelash...	ORPHA:221008
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ...	ORPHA:2637
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia...	OMIM:181270
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot	OMIM:613563
Koolen-De Vries Syndrome	Fair hair, Iris hypopigmentation, Abnormality of hair texture	OMIM:610443
Mucopolysaccharidosis, Type Iiid	Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow	OMIM:252940
Premature Aging Syndrome, Penttinen Type	Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:601812
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo...	OMIM:304110
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Anhidrosis, Thin nail	OMIM:617799
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr...	ORPHA:84064
Chime Syndrome	Sparse hair, Hyperkeratosis, Fine hair	ORPHA:3474
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Cafe-...	OMIM:601358
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:234100
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Adrenomyeloneuropathy	Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair	ORPHA:139399
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Hyperpigmentation of the skin, Alopecia totalis, Sparse or absent eyelash...	ORPHA:221016
White-Sutton Syndrome	Sparse hair	OMIM:616364
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair	OMIM:300661
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Hypohidrosis, Hyperkeratosis, Sparse body hair	ORPHA:548
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Synophrys, Toenail dysplasia, Hirsutism	OMIM:300966
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair	ORPHA:261349
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy...	OMIM:618268
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Numerous pigmented freckl...	ORPHA:33364
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Mucopolysaccharidosis, Type Vii	Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow	OMIM:244450
Stuve-Wiedemann Syndrome 1	Sparse hair, Blotching pigmentation of the skin, Hyperhidrosis	OMIM:601559
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
De Barsy Syndrome	Sparse hair	ORPHA:2962
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Cockayne Syndrome B	Anhidrosis, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Pigmentary reti...	OMIM:133540
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F...	ORPHA:235
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hypoplastic nipples, Sparse hair, ...	OMIM:280000
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Melanocytic nevus, Low posterior hairline	ORPHA:648
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Melanocytic nevus, Sparse hair, Thick eyebrow, Hy...	OMIM:602535
Cockayne Syndrome A	Anhidrosis, Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmentation, Pigm...	OMIM:216400
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair	OMIM:252500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Mucolipidosis Type Ii	Dry hair, White hair, Fine hair	ORPHA:576
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow, Palmoplantar hyperkeratosis	OMIM:619127
Cartilage-Hair Hypoplasia	Sparse hair, Abnormality of retinal pigmentation, Sparse eyebrow	ORPHA:175
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture	ORPHA:667
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Mucopolysaccharidosis Type 3	Thick hair, Synophrys, Pigmentary retinopathy, Coarse hair, Generalized hirsutism, Hirsutism	ORPHA:581
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair	OMIM:151050
Costello Syndrome	Deep-set nails, Curly hair, Hyperpigmentation of the skin, Thin nail, Concave nail, Sparse hair, ...	OMIM:218040
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair	OMIM:620005
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Occipital Horn Syndrome	Coarse hair, Pili torti	OMIM:304150
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut...	ORPHA:955
Melnick-Needles Syndrome	Coarse hair, Frontal hirsutism	OMIM:309350
Roberts Syndrome	Sparse hair	ORPHA:3103
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Nail dystrophy, Hypoplastic nipples, Small nail, Sparse hair	OMIM:620186
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:613610
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis, Sparse hair	OMIM:210710
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Ca...	OMIM:619950
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars...	OMIM:612289
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism	OMIM:617157
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Cockayne Syndrome Type 3	Premature graying of hair, Dry hair	ORPHA:90324
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair, Parakeratosis	ORPHA:83617
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Sparse scalp hair, Pigmentary retinopathy	OMIM:606721
Distal Deletion 12Q	Small nail, Fine hair	ORPHA:96149
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Hyperhidrosis, Hypohidrosis, Sparse hair, Alopecia of scalp, Fr...	OMIM:150230
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Brushfield spots, Stellate iris, Synophrys, Blue irides, Lon...	OMIM:619539
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Wrinkly Skin Syndrome	Sparse hair, Short nail, Fragile nails	OMIM:278250
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,...	OMIM:135900
Coffin-Lowry Syndrome	Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow	OMIM:303600
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Cockayne Syndrome	Abnormality of retinal pigmentation, Dry hair, Anhidrosis, Fine hair, Pigmentary retinopathy	ORPHA:191
Wrinkly Skin Syndrome	Sparse hair	ORPHA:2834
Noonan Syndrome 1	Woolly hair, Cafe-au-lait spot, Low posterior hairline	OMIM:163950
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Generalized hypopigmentation, Fine hair	ORPHA:534
Branchiooculofacial Syndrome	Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h...	OMIM:113620
Ogden Syndrome	Sparse eyebrow, Long eyelashes, Fine hair	OMIM:300855
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Few cafe-au-lait spo...	OMIM:619503
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Hypoplastic nipples, Depigmentation/hyperpigmentation of skin, Hypertrichosis	ORPHA:480880
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Synophrys, Pigmentary retinopathy, Sparse hair, Hirsutism, Aplasia/Hypoplasia ...	ORPHA:3455
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S...	OMIM:259050
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails	OMIM:613406
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Melanocytic nevus, Abnormalit...	ORPHA:286
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Curly hair, Broad lateral eyebrow	ORPHA:500150
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ...	OMIM:601803
Liver Disease, Severe Congenital	Dry hair, Nail dystrophy	OMIM:619991
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cafe-au-lait spot	OMIM:268300
Alström Syndrome	Frontal balding, Hirsutism, Fine hair	ORPHA:64

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 Zdhhc21

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 Zdhhc21.

No publications found that use IMPC mice or data for Zdhhc21.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Zdhhc21^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zdhhc21^{tm21(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zdhhc21^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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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