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Gene: Foxq1 MGI:1298228

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box Q1
Synonyms:
sa,  Hfh1l,  HFH-1,  Hfh1

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 Foxq1 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.

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

The table below shows human diseases predicted to be associated to Foxq1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Carvajal Syndrome
Woolly hair ORPHA:65282
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... OMIM:601705
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
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
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl ORPHA:168
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe... OMIM:258360
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Nail Disorder, Nonsyndromic Congenital, 3
Abnormal hair morphology, Leukonychia, Concave nail OMIM:151600
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Peeling Skin Syndrome 1
Eosinophilia, Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... OMIM:234050
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity OMIM:608898
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Absent isohemagglutinin level, Increased circulating antibody level, Reduced natural ki... OMIM:615559
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Acrogeria
Fine hair ORPHA:2500
Immunodeficiency 20
Reduced natural killer cell activity OMIM:615707
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level OMIM:613101
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair ORPHA:1028
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Noonan Syndrome 6
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Low posterior hairline, Sparse hair OMIM:613224
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Leopard Syndrome 2
Curly hair OMIM:611554
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia OMIM:256500
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit... ORPHA:978
Trichothiodystrophy 3, Photosensitive
Brittle hair, Neutropenia, Tiger tail banding, Lymphopenia, Trichorrhexis nodosa OMIM:616395
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Pancytopenia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Nail d... OMIM:613990
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nuclei, Sparse hair OMIM:620075
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... OMIM:250250
Cardiofaciocutaneous Syndrome 3
Curly hair OMIM:615279
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, White hair, Anemia, Fine hair ORPHA:935
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... ORPHA:3353
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Tonne-Kalscheuer Syndrome
Concave nail, Small nail, Fine hair OMIM:300978
Noonan Syndrome 5
Sparse eyebrow, Curly hair, Small nail, Fine hair OMIM:611553
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T... OMIM:601675
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, Abnormality of hair texture OMIM:219200
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Macrocephaly/Autism Syndrome
Splenomegaly, Coarse hair, Lymphopenia OMIM:605309
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Fine hair OMIM:616817
Trichotillomania
Alopecia OMIM:613229
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... ORPHA:217346
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity OMIM:616050
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Synophrys, Splenomegaly, Low anterior hairline, Low posterior hairline, Anemia,... OMIM:617303
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Schimke Immunoosseous Dysplasia
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Fine hair, Coarse hair, Neutropenia, ... OMIM:242900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Synophrys, Low anterior hairline, Fine hair ORPHA:391408
Smith-Kingsmore Syndrome
Curly hair, Thrombocytopenia OMIM:616638
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Noonan Syndrome 8
Curly hair OMIM:615355
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair OMIM:614800
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Hypoplast... ORPHA:3071
Multiple Sulfatase Deficiency
Splenomegaly, Coarse hair, Thick eyebrow ORPHA:585
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Synophrys, Widow's peak, Thrombocytopenia, Coarse hair, Horizontal eyebrow,... OMIM:620072
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Fine hair OMIM:620250
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Fair hair, Impaired ADP-induced platelet aggregation, Albinism OMIM:608233
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia OMIM:610733
Noonan Syndrome 7
Curly hair, Low posterior hairline OMIM:613706
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair OMIM:608612
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse ha... OMIM:612199
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair ORPHA:457485
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomeg... ORPHA:84064
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair OMIM:236200
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Abnormality of hair texture ORPHA:79351
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia, Coarse hair, Nail dysplasia OMIM:612394
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Fine hair... OMIM:222470
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Decreased circulating antibody level ORPHA:540
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair ORPHA:1812
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline OMIM:617360
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Lysinuric Protein Intolerance
Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Thrombocytopenia OMIM:222700
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... ORPHA:2108
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ... ORPHA:1340
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Increased mean corpuscula... ORPHA:33364
Mucopolysaccharidosis, Type Iiid
Splenomegaly, Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... ORPHA:2710
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Anemia, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:2637
Trichohepatoneurodevelopmental Syndrome
Curly hair, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hai... OMIM:618268
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Koolen-De Vries Syndrome
Fair hair, Abnormality of hair texture OMIM:610443
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Fine hair, Low posterior h... OMIM:613563
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
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Leukemia, Low posterior hairline OMIM:605275
Mucopolysaccharidosis, Type Vii
Splenomegaly, Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair ORPHA:261349
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity OMIM:603553
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Hypoplasia of the thymus, N... ORPHA:1896
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... ORPHA:235
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia ORPHA:920
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair OMIM:607721
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Chand Syndrome
Curly hair, Nail dysplasia ORPHA:1401
Lateral Meningocele Syndrome
Coarse hair OMIM:130720
Cerebellar-Facial-Dental Syndrome
Sparse hair, Sparse eyebrow, Fine hair ORPHA:444072
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
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
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:234100
Noonan Syndrome 10
Sparse eyebrow, Curly hair OMIM:616564
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... OMIM:601358
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:305450
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Anemia, Abnormality of hair texture ORPHA:667
Mucolipidosis Type Ii
Dry hair, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair ORPHA:576
Noonan Syndrome
Abnormal hair quantity, Abnormality of the spleen, Coarse hair, Low posterior hairline ORPHA:648
Chime Syndrome
Sparse hair, Acute leukemia, Fine hair ORPHA:3474
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture ORPHA:73223
Mucopolysaccharidosis Type 3
Thick hair, Splenomegaly, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism ORPHA:581
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
Orofaciodigital Syndrome Type 1
Sparse hair, Alopecia, Coarse hair, Brittle hair ORPHA:2750
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Coarse hair, Gene... ORPHA:955
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Fine hair, Acute lymphoblastic leukemia, Hypoplastic nipples, Sparse hair,... OMIM:280000
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair OMIM:218330
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis OMIM:602535
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Splenomegaly, Brittle hair, Sparse hair OMIM:252500
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Cockayne Syndrome B
Sparse hair, Splenomegaly, Dry hair, Abnormal hair morphology OMIM:133540
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism OMIM:309350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... OMIM:619950
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars... OMIM:612289
Cockayne Syndrome Type 3
Premature graying of hair, Splenomegaly, Dry hair ORPHA:90324
Cockayne Syndrome A
Sparse hair, Splenomegaly, Dry hair OMIM:216400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
Myhre Syndrome
Sparse hair, Thick eyebrow, Fine hair OMIM:139210
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails OMIM:218040
Distal Deletion 12Q
Small nail, Fine hair ORPHA:96149
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Zttk Syndrome
Sparse eyebrow, Curly hair, Broad eyebrow OMIM:617140
Ogden Syndrome
Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Polycythemia, Thrombocytopenia OMIM:300855
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... OMIM:135900
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... OMIM:305600
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Noonan Syndrome 1
Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha... OMIM:163950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Oculocerebrorenal Syndrome Of Lowe
Anemia, Sparse scalp hair, Thrombocytopenia, Fine hair ORPHA:534
Coffin-Lowry Syndrome
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... OMIM:619539
Cockayne Syndrome
Splenomegaly, Dry hair, Fine hair ORPHA:191
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Hemolytic anemia, Sy... OMIM:619503
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:210710
Liver Disease, Severe Congenital
Dry hair, Splenomegaly, Anemia, Leukopenia, Nail dystrophy, Lymphocytosis, Thrombocytopenia OMIM:619991
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Curly hair, Broad lateral eyebrow ORPHA:500150
Vascular Ehlers-Danlos Syndrome
Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex... ORPHA:286
Alström Syndrome
Frontal balding, Splenomegaly, Hepatosplenomegaly, Fine hair, Hirsutism 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 Foxq1

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 Foxq1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
FOXQ1 controls the induced differentiation of melanocytic cells. Cell death and differentiation (February 2018) Foxq1tm1(KOMP)Vlcg 29463842

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MGI Allele Allele Type Produced
Foxq1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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