Gene Summary

Name:
SPT7-like, STAGA complex gamma subunit
Synonyms:
2610524B01Rik,  6030455L14Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Supt7ltm1a(EUCOMM)Wtsi HET   Early adult 3.17×10-05
decreased body weight Supt7ltm1a(EUCOMM)Wtsi HET Early adult 1.71×10-06
abnormal hair texture Supt7ltm1a(EUCOMM)Wtsi HET Early adult 3.72×10-07
decreased total body fat amount Supt7ltm1a(EUCOMM)Wtsi HET Early adult 3.73×10-06
abnormal lens morphology Supt7ltm1a(EUCOMM)Wtsi HET   Early adult 3.31×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 109 images

Human diseases caused by Supt7l 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 Supt7l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Pili Torti
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... ORPHA:2889
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
X-Linked Retinoschisis
Cataract ORPHA:792
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract, Failure to thrive ORPHA:2278
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Small for gestational age, Hirsutism ORPHA:85288
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Bardet-Biedl Syndrome 18
Cataract, Obesity OMIM:615995
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Trichodental Dysplasia
Fine hair, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Galactosemia Ii
Cataract OMIM:230200
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Brittle hair, Curly hair, Sparse eyelashes, Pi... OMIM:602400
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Galactosemia Iv
Cataract OMIM:618881
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair, Juvenile cataract ORPHA:1264
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Inguinal hernia, Decreased body weight OMIM:618392
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Sparse body hair, Congenital onychodystrophy, Nail dystr... ORPHA:2890
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Inguinal hernia, Fine hair ORPHA:1174
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Cataract 47
Cataract, Microcornea OMIM:612018
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Nathalie Syndrome
Cataract OMIM:255990
Progeroid Syndrome, Petty Type
Failure to thrive, Umbilical hernia, Abnormal hair morphology, Thick eyebrow, Long eyelashes in i... ORPHA:2963
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Na... OMIM:234050
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin, Nail dystrophy, Alopecia totalis ORPHA:1366
Carvajal Syndrome
Woolly hair ORPHA:65282
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Morm Syndrome
Cataract, Truncal obesity ORPHA:75858
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Decreased body weight, Developmental cataract, Camptodactyly OMIM:619420
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy ORPHA:1839
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Intestinal Dysmotility Syndrome
Cataract, Weight loss, Failure to thrive OMIM:620045
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age OMIM:278780
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Inguinal hernia, Umbilical hernia ORPHA:1373
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Kahrizi Syndrome
Cataract, Iris coloboma, Knee flexion contracture, Elbow contracture OMIM:612713
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Trichohepatoenteric Syndrome 2
Failure to thrive, Trichorrhexis nodosa, Woolly hair, Uncombable hair, Brittle hair, Sparse hair,... OMIM:614602
Stiff Skin Syndrome
Cataract, Elbow flexion contracture, Knee flexion contracture, Lipodystrophy, Camptodactyly OMIM:184900
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Absence o... OMIM:601675
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Corneal opacity... ORPHA:317
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Tiger tail banding, Slow-growing hair, Brittle hair, Small for gestational age OMIM:616943
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Joint contracture OMIM:615704
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Galactose Mutarotase Deficiency
Cataract, Failure to thrive ORPHA:570422
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Scl... ORPHA:1806
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Copper Deficiency, Familial Benign
Early balding, Failure to thrive, Curly hair OMIM:121270
Retinitis Pigmentosa 40
Cataract OMIM:613801
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Ankle flexion contracture, Coarse hair OMIM:619985
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Failure to thrive, Sparse lateral eyebrow, Supernumerary nipple, Fine hair... ORPHA:217346
Vogt-Koyanagi-Harada Disease
Cataract, Premature graying of hair, Abnormal eyebrow morphology, Abnormal eyelash morphology, Po... ORPHA:3437
Distal Duplication 6P
Cataract, Fine hair, Hernia, Abnormal hair quantity, Abnormal eyelash morphology ORPHA:1745
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive ORPHA:67048
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Premature graying of hair, Elbow flexion contracture, D... OMIM:616200
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Coarse hair, Knee flexion contracture, Hip contracture, Sparse hair OMIM:118650
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Sparse hair ORPHA:1883
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Sparse hair, Small for gestational age OMIM:610756
Trichothiodystrophy 3, Photosensitive
Cataract, Failure to thrive, Trichorrhexis nodosa, Tiger tail banding, Developmental cataract, Br... OMIM:616395
Craniofrontonasal Dysplasia
Ridged fingernail, Camptodactyly of finger, Congenital diaphragmatic hernia, Low posterior hairli... ORPHA:1520
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Fine hair OMIM:272300
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Weaver Syndrome
Fine hair, Camptodactyly of finger, Abnormal fingernail morphology, Inguinal hernia, Hypoplastic ... ORPHA:3447
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 48
Cataract OMIM:618415
Fg Syndrome 3
Fine hair, Sparse hair, Frontal upsweep of hair, Joint contracture OMIM:300406
Aniridia 3
Cataract, Aniridia OMIM:617142
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Failure to thrive, Brittle hair ORPHA:50812
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Failure to thrive, Inguinal hernia, Lipodystrophy, Brittle hair, Abnormality of hair... OMIM:219200
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, Small for gestational age, High anterior hairline ORPHA:231137
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypopla... ORPHA:2930
Acrogeria
Lipoatrophy, Fine hair ORPHA:2500
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Jaberi-Elahi Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Failure to thrive, Nail dystrophy, Woolly scalp ha... OMIM:620519
Cardiofaciocutaneous Syndrome 4
Cataract, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair OMIM:615280
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair ORPHA:90368
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Opacification of the corneal st... OMIM:158310
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring a... ORPHA:35173
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Ectopia lentis, Failure to thrive, Inguinal hernia, Brittle hair, Lens subluxation OMIM:236200
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Corneal opacity, Congenital abnormal hair pattern ORPHA:1867
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Noonan Syndrome 9
Sparse eyebrow, Prominent corneal nerve fibers, Curly hair OMIM:616559
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Umbilical hernia, Astigmatism, Low anterior hairline, Generalized hirsutism, Scleroc... ORPHA:2095
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Tonne-Kalscheuer Syndrome
Small nail, Fine hair, Congenital diaphragmatic hernia, Blue irides, Concave nail OMIM:300978
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Inguinal hernia ORPHA:1069
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hall-Riggs Syndrome
Coarse hair, Failure to thrive, Abnormal dental enamel morphology, Thick hair, Slow-growing hair ORPHA:2107
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Obesity OMIM:601794
Costello Syndrome
Keratoconus, Abnormal dental enamel morphology, Failure to thrive in infancy, Abnormal hair morph... ORPHA:3071
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Dorsocervical fat pad, Low anterior hairline, Decreased body weight, Sparse hair, Smal... ORPHA:391408
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Flexion contracture of digit, Woolly hair OMIM:619208
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Cataract, Subcapsular cataract ORPHA:414
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Obesity ORPHA:363741
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Brittle hair, Sparse scalp hair OMIM:256500
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Fine hair, Elbow flexion contracture, Inguinal hernia, Flexion contracture, Sparse hair... OMIM:614438
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Hernia of the abdominal wall, Uncombable hair, Slow-growing hair, Aplas... ORPHA:3082
Peeling Skin Syndrome 1
Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss of truncal subcut... OMIM:608612
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal dental enamel morphology, Abnormal fingernail morphology, Hypoplastic toenail... ORPHA:1028
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... OMIM:167210
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Curly hair OMIM:615279
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Umbilical hernia, Inguinal hernia, Developmental cataract, Abnormality of hair... ORPHA:79351
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Corneal opacity ORPHA:585
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Cataract, Microcornea, Failure to thrive, Fine hair, Sparse eyelashes, Persistent pu... OMIM:257850
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Developmental cataract, Brittle hair OMIM:618810
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Mucopolysaccharidosis, Type Iiia
Coarse hair, Umbilical hernia, Inguinal hernia, Hirsutism, Synophrys OMIM:252900
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... OMIM:129400
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Failure to thrive, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226600
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Large for gestational age, Curly hair OMIM:611553
Chops Syndrome
Cataract, Coarse hair, Long eyelashes, Obesity, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Small for gestational age, Fine hair OMIM:616817
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Hirsutism, Hernia, Synophrys OMIM:252930
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Netherton Syndrome
Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse eyelashes, Spar... ORPHA:634
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Fine hair ORPHA:3236
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Iris coloboma, Buphthalmos OMIM:212550
Noonan Syndrome 8
Large for gestational age, Failure to thrive, Curly hair OMIM:615355
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Hyperopic astigmatism, Fine hair ORPHA:363686
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Cataract, Corneal erosion OMIM:614878
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Failure to thrive, Fair hair, Abnormality of hair texture, Small... OMIM:610443
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Cataract, Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Microcornea, Umbilical hernia, Ridged nail, Tiger tail banding, ... ORPHA:33364
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology, Fine hair, Umbilical hernia, Abnormal dental ... ORPHA:2710
Bcard Syndrome
Cataract, Coarse hair, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow... OMIM:612394
Noonan Syndrome 6
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair OMIM:613224
Revesz Syndrome
Ridged fingernail, Fine hair, Megalocornea, Nail dystrophy, Leukocoria, Sparse hair, Nail pits OMIM:268130
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... OMIM:225060
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Cataract, Alopecia, Opacification of the corneal stroma ORPHA:3453
Braddock-Carey Syndrome 1
Camptodactyly, Sparse hair, Enamel hypoplasia, Curly hair OMIM:619980
Fetal Hydantoin Syndrome
Hernia, Coarse hair, Low posterior hairline, Hypoplastic fingernail ORPHA:1912
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Large for gestational age, Blue irides, Curly hair OMIM:610733
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Failure to thrive, Inguinal hernia, Abnormal subcutaneous fat tissue distribution, L... ORPHA:357074
Menkes Disease
Alopecia, Sparse hair, Brittle hair OMIM:309400
Smith-Kingsmore Syndrome
Large for gestational age, Curly hair, Umbilical hernia OMIM:616638
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Astigmatism, Opacification of the corneal stroma, Small for gestational age OMIM:242900
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Cerebellar-Facial-Dental Syndrome
Cataract, Sparse eyebrow, Foot joint contracture, Failure to thrive, Fine hair, Inguinal hernia, ... ORPHA:444072
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Long eyelashes, Obesity, Fine hair, Synophrys OMIM:620250
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Oculodentodigital Dysplasia
Cataract, Microcornea, Dry hair, Fine hair, Joint contracture of the 5th finger, Enamel hypoplasi... OMIM:164200
Leopard Syndrome 2
Curly hair OMIM:611554
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Failure to thrive, Anterior chamber synechiae ORPHA:85410
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
Scalp-Ear-Nipple Syndrome
Sparse hair, Cataract, Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Multiple lip... OMIM:181270
Hallermann-Streiff Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Developmental cataract, Abnormality... ORPHA:2108
Cockayne Syndrome B
Sparse hair, Atypical scarring of skin, Microcornea, Dry hair, Failure to thrive, Hypoplasia of t... OMIM:133540
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Astigmatism, Ing... OMIM:607721
Noonan Syndrome 7
Low posterior hairline, Large for gestational age, Curly hair OMIM:613706
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Astigmatism, Decreased body weight, Distal ... OMIM:618268
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
Ablepharon Macrostomia Syndrome
Fine hair, Umbilical hernia, Camptodactyly of finger, Breast hypoplasia, Absent eyelashes, Abnorm... ORPHA:920
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Failure to thrive ORPHA:88618
Leopard Syndrome 3
Low posterior hairline, Curly hair OMIM:613707
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Hernia, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair, Umbilical hernia ORPHA:3079
Macrocephaly/Autism Syndrome
Obesity, Coarse hair, Large for gestational age OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Curly hair OMIM:300986
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Failure to thrive in infancy, Brittle hair, Flexion contracture, Sparse hair, Small fo... OMIM:618891
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Trisomy 20P
Highly arched eyebrow, Coarse hair, Umbilical hernia, Camptodactyly of finger, Thick eyebrow, Ing... ORPHA:261318
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Coarse hair, Punctate cataract, Brittle hair, Sparse hair OMIM:607812
Hallermann-Streiff Syndrome
Cataract, Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Iris coloboma, Small for gest... OMIM:234100
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Astigmatism, Brittle hair OMIM:619184
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Craniofrontonasal Syndrome
Axillary pterygium, Umbilical hernia, Breast hypoplasia, Ridged nail, Congenital diaphragmatic he... OMIM:304110
Cardiofaciocutaneous Syndrome
Fine hair, Failure to thrive in infancy, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... ORPHA:1340
Cerebellofaciodental Syndrome
Cataract, Sparse eyebrow, Fine hair OMIM:616202
Trichohepatoenteric Syndrome 1
Failure to thrive, Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Brittle hair, Sparse... OMIM:222470
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Flexion co... OMIM:617303
Mucopolysaccharidosis, Type Vii
Coarse hair, Umbilical hernia, Thick eyebrow, Hirsutism, Corneal opacity, Flexion contracture OMIM:253220
Ogden Syndrome
Inguinal hernia, Fine hair, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Curly hair ORPHA:457485
2P15P16.1 Microdeletion Syndrome
Sparse eyebrow, Failure to thrive, Fine hair, Supernumerary nipple, Camptodactyly of finger, Long... ORPHA:261349
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Thick eyebrow, Low posterior hairline, Curly hair, Camptodactyly OMIM:617360
Hajdu-Cheney Syndrome
Cataract, Coarse hair, Failure to thrive, Umbilical hernia, Abnormal fingernail morphology, Thick... ORPHA:955
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Abnormal dental enamel mor... ORPHA:1071
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Inguinal hernia, Aplastic/hyp... ORPHA:1812
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... OMIM:305100
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Failure to thrive, Brittle hair OMIM:207900
Galloway-Mowat Syndrome 9
Hiatus hernia, Coarse hair OMIM:619603
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Fine hair, Abnormal dental enamel morphology, Thick eyebr... ORPHA:1896
Mucopolysaccharidosis Type 3
Cataract, Coarse hair, Umbilical hernia, Inguinal hernia, Hirsutism, Generalized hirsutism, Thick... ORPHA:581
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Coarse hair, Inguinal hernia ORPHA:1786
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Cockayne Syndrome A
Sparse hair, Cataract, Atypical scarring of skin, Dry hair, Failure to thrive, Loss of facial adi... OMIM:216400
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Mucolipidosis Ii Alpha/Beta
Sparse hair, Sparse eyebrow, Failure to thrive, Umbilical hernia, Megalocornea, Inguinal hernia, ... OMIM:252500
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Obesity, Widow's peak, Synophrys OMIM:620072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, High anterior hairline, Coarse hair, Failure to thrive, Sparse lateral eye... OMIM:617506
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Syndromic Diarrhea
Trichorrhexis nodosa, Inguinal hernia, Uncombable hair, Brittle hair, Hypopigmentation of hair, W... ORPHA:84064
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair OMIM:613451
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... OMIM:612109
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Nicolaides-Baraitser Syndrome
Dry hair, Failure to thrive, Umbilical hernia, Sparse medial eyebrow, Hypertrichosis, Long eyelas... OMIM:601358
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Absent eyelashes, Low posterior hairline, Absent eyebrow, Slow-growing hair, C... OMIM:115150
Mucopolysaccharidosis, Type Iiid
Coarse hair, Elbow flexion contracture, Facial hirsutism, Thick eyebrow, Inguinal hernia, Hirsuti... OMIM:252940
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Noonan Syndrome 14
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair OMIM:619745
Neuroocular Syndrome 1
Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Small nail, Umbilical hernia, Long ... OMIM:619539
Weaver Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Thin nail, Deep-set ... OMIM:277590
Cockayne Syndrome
Lentiglobus, Cataract, Band keratopathy, Congenital contracture, Contractures of the large joints... ORPHA:191
Genitopatellar Syndrome
Fine hair, Knee flexion contracture, Hip contracture, Arthrogryposis multiplex congenita, Sparse ... ORPHA:85201
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Dry hair, Premature graying of hair, Keratoconjunctivitis sic... ORPHA:90324
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes... ORPHA:444077
Mucolipidosis Type Ii
Dry hair, White hair, Umbilical hernia, Fine hair, Inguinal hernia, Knee flexion contracture, Hip... ORPHA:576
Dubowitz Syndrome
Cataract, Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails... ORPHA:235
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia OMIM:613990
Noonan Syndrome 10
Sparse eyebrow, Prominent corneal nerve fibers, Curly hair OMIM:616564
Lateral Meningocele Syndrome
Keloids, Inguinal hernia, Coarse hair, Umbilical hernia OMIM:130720
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Inguinal hernia, Fine hair ORPHA:935
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Fine hair OMIM:614800
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Failure to thrive, Sclerocornea, Sparse hair, Small for gestational age OMIM:619869
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Frontal upsweep of hair, Inguinal her... OMIM:305450
Myhre Syndrome
Cataract, Fine hair, Obesity, Thick eyebrow, Camptodactyly, Sparse hair, Small for gestational age OMIM:139210
Marshall-Smith Syndrome
Highly arched eyebrow, Failure to thrive, Umbilical hernia, Hypertrichosis, Thick eyebrow, Decrea... OMIM:602535
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Truncal obesity, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Atypical scarring of skin, Failure to thrive, Fine hair, Umbilical hernia,... ORPHA:534
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hernia, Woolly h... ORPHA:565
Focal Dermal Hypoplasia
Ectopia lentis, Umbilical hernia, Supernumerary nipple, Aniridia, Ridged nail, Absent toenail, In... OMIM:305600
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Joint contracture of the hand, Sparse lateral eyebrow, Fine hair, Umbilica... OMIM:280000
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Failure to thrive, Fine hair, Low posterior hairline, Sparse hair OMIM:613563
Noonan Syndrome 2
Sparse eyebrow, Anterior polar cataract, Low posterior hairline, Distal arthrogryposis, Curly hai... OMIM:605275
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Sympathetic Ophthalmia
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... ORPHA:79098
Fontaine Progeroid Syndrome
Absent nipple, Coarse hair, Failure to thrive, Small nail, Umbilical hernia, Hypertrichosis, Redu... OMIM:612289
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Failure to thrive, Sparse lateral eyebrow, Long eyela... OMIM:619950
Lysinuric Protein Intolerance
Fine hair, Sparse hair, Failure to thrive, Truncal obesity OMIM:222700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Failure to thrive, Brittle hair OMIM:124000
Renpenning Syndrome 1
Cataract, Joint contracture of the hand, Sparse lateral eyebrow, Brittle hair, Camptodactyly, Spa... OMIM:309500
Chime Syndrome
Sparse hair, Fine hair, Corneal opacity ORPHA:3474
Melnick-Needles Syndrome
Frontal hirsutism, Coarse hair, Failure to thrive, Omphalocele OMIM:309350
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Inguinal hernia, Enamel hypoplasia, Thin nail, Slow-growing hair, Sparse hair OMIM:218330
Witteveen-Kolk Syndrome
Cataract, High anterior hairline, Medial flaring of the eyebrow, Fine hair, Obesity, Inguinal her... OMIM:613406
Distal Deletion 12Q
Small nail, Fine hair, Elbow flexion contracture, Failure to thrive in infancy, Obesity ORPHA:96149
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Umbilical hernia, Hypertrichosis, Long eyelashes, Hypoplastic fi... OMIM:135900
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Abnormal dental enamel morphology, Brittle hair, Sparse hair ORPHA:2750
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Coarse hair, Inguinal hernia, Hiatus hernia, Scarring, Thick ... ORPHA:198
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair, Enamel hypoplasia OMIM:311200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Failure to thrive, Medial fl... OMIM:619503
Noonan Syndrome
Low posterior hairline, Coarse hair, Blue irides, Abnormal hair quantity ORPHA:648
Costello Syndrome
Failure to thrive, Concave nail, Deep-set nails, Achilles tendon contracture, Thin nail, Curly ha... OMIM:218040
Zttk Syndrome
Sparse eyebrow, Failure to thrive, Broad eyebrow, Curly hair, Flexion contracture OMIM:617140
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thick eyebrow, Hypoplastic sweat glands, Abnormality of hair texture, Localized hypoplasia of den... ORPHA:73223
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Shoulder flexion contracture, Failure to thrive, Fine hair, Elbow flexion contrac... OMIM:210710
Coffin-Lowry Syndrome
Highly arched eyebrow, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Inguinal hernia, Uter... OMIM:303600
Ogden Syndrome
Sparse eyebrow, Fine hair, Umbilical hernia, Long eyelashes, Inguinal hernia, Minimal subcutaneou... OMIM:300855
Occipital Horn Syndrome
Hiatus hernia, Pili torti, Coarse hair OMIM:304150
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, Coarse hair, Inguinal hernia, Fai... ORPHA:83617
Chand Syndrome
Nail dysplasia, Curly hair ORPHA:1401
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Cigarette-paper scars, Umbilical hernia, Cystocele, Abnormal pupil morphol... ORPHA:286
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cataract, Hypertrichosis, Astigmatism, Hypoplastic nipples, Curly hair ORPHA:480880
Liver Disease, Severe Congenital
Dry hair, Failure to thrive, Umbilical hernia, Nail dystrophy, Inguinal hernia OMIM:619991
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Sparse eyebrow, Broad lateral eyebrow, Curly hair ORPHA:500150
Noonan Syndrome 1
Failure to thrive in infancy, Woolly hair, Low posterior hairline OMIM:163950
Alström Syndrome
Cataract, Posterior subcapsular cataract, Frontal balding, Fine hair, Obesity, Dorsocervical fat ... 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 Supt7l

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 Supt7l.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)