Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
translocase of inner mitochondrial membrane 23
Synonyms:
Tim23

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Timm23 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 Timm23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Alopecia, Sparse hair OMIM:212835
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Lumbar hypertrichosis, Thoracic hypertrichosis, Kyphoscoliosis, Anterior cervical hypertrichosis,... OMIM:117850
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Congenital alopecia totalis, Nail pits ORPHA:169095
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Scoliosis, Kyphosis OMIM:617087
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
L-Ferritin Deficiency
Alopecia OMIM:615604
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Candidiasis, Familial, 1
Alopecia OMIM:114580
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Monilethrix
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Flynn-Aird Syndrome
Ataxia, Kyphoscoliosis, Alopecia, Alopecia of scalp OMIM:136300
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body ORPHA:2777
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Kerion Celsi
Alopecia ORPHA:499
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Short neck, Squared-off platyspondyly, Scoli... OMIM:271530
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis ORPHA:101075
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis OMIM:300718
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Scoliosis, Sparse body hair ORPHA:2850
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Hemifacial Atrophy, Progressive
Poliosis, Ataxia, Patchy alopecia, Kyphosis OMIM:141300
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis ORPHA:101078
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Kyphosis ORPHA:85288
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Alopecia, Low back pain OMIM:600142
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Hypertrichosis, Kyphosis, Ataxia, Scoliosis, Synophrys ORPHA:85317
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Alopecia OMIM:612079
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Zimmermann-Laband Syndrome 3
Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey... OMIM:618658
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Platyspondyly, Albinism, Kyphosis ORPHA:2786
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Kyphosis OMIM:609384
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis OMIM:618323
Quinquaud Folliculitis Decalvans
Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp ORPHA:346
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Hirsutism, Kyphosis, Ataxia, Scoliosis, Synophrys OMIM:300861
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Thick hair, Thick eyebrow, Low posterior hairline, Scoliosis, Synophrys ORPHA:2429
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Scoliosis, Kyphosis OMIM:300434
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Hypertrichosis, Kyphosis OMIM:614898
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia OMIM:614564
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Scoliosis OMIM:615704
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Hypomelanosis Of Ito
Alopecia, Scoliosis, Kyphosis OMIM:300337
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Flynn-Aird Syndrome
Impaired pain sensation, Alopecia, Kyphosis, Ataxia, Scoliosis ORPHA:2047
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Ataxia, Scoliosis, Lumbar hyperlordosis, Kyphosis OMIM:616756
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Alopecia OMIM:203550
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Nail dystrophy, Alopecia OMIM:618373
Autosomal Recessive Spastic Paraplegia Type 53
Impaired proprioception, Impaired vibratory sensation, Kyphosis ORPHA:319199
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Scoliosis, Sparse body hair, Alopecia ORPHA:177
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Scoliosis, Kyphosis ORPHA:99014
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Dysmetria, Long eyelashes, Abnormality of the cervical spine, Kyphosis, Ataxia, Scol... ORPHA:48431
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Abnormal hair quantity, Kyphosis, Low posterior hairline, Vertebral segmentati... ORPHA:2617
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Nail dystrophy, Alopecia totalis OMIM:212360
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Kyphosis, Sparse hair, Scoliosis ORPHA:1883
Zimmermann-Laband Syndrome 2
Long eyelashes, Kyphosis, Thick eyebrow, Short neck, Widow's peak, Synophrys OMIM:616455
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Alopecia ORPHA:79397
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Alopecia, Abnormal vertebral morphology ORPHA:337
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Alopecia, Coronal cleft vertebrae OMIM:215100
Sandhoff Disease
Ataxia, Kyphosis ORPHA:796
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Sparse and thin eyebrow, Sparse eyelashes, Abnormality of the nail, Alopecia OMIM:129540
Erythrokeratodermia Variabilis
Abnormality of the nail, Alopecia, Abnormal hair morphology, Generalized hirsutism ORPHA:317
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Cdkl5-Deficiency Disorder
Synophrys, Impaired pain sensation, Scoliosis, Kyphosis ORPHA:505652
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse h... ORPHA:3051
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Shashi-Pena Syndrome
Highly arched eyebrow, Scoliosis, Kyphosis OMIM:617190
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis OMIM:230650
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Fingernail dysplasia, Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse scal... ORPHA:2325
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Spondylometaphyseal Dysplasia, X-Linked
Abnormality of the nail, Thoracolumbar scoliosis, Platyspondyly, Kyphosis OMIM:313420
Idiopathic Trachyonychia
Ridged nail, Fingernail dysplasia, Thin nail, Nail dystrophy, Circumungual hyperkeratosis, Fragil... ORPHA:79153
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Scoliosis, Kyphosis ORPHA:2598
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Alopecia, Abnormality of the nail ORPHA:494
Jaberi-Elahi Syndrome
Sparse eyelashes, Choreoathetosis, Dysmetria, Sparse eyebrow, Kyphosis, Gait ataxia, Scoliosis OMIM:617988
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Nail dysplasia, Sparse an... OMIM:612843
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Synophrys, Thick eyebrow, Kyphosis OMIM:617061
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Alopecia universalis, Sparse hair OMIM:614594
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Limb dysmetria, Impaired vibration sensation in the lower limbs, Kyphosis, ... OMIM:614409
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mental Retardation, Autosomal Dominant 26
Thick eyebrow, Highly arched eyebrow, Scoliosis, Kyphosis OMIM:615834
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Kleefstra Syndrome 2
Thick eyebrow, Scoliosis, Kyphosis OMIM:617768
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis OMIM:301900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Alopecia of scalp, Sparse eyebrow, Absent pubic hair, Absent axillar... ORPHA:2269
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Mental Retardation, Autosomal Dominant 57
Hypertrichosis, Scoliosis, Kyphosis OMIM:618050
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Nail dystrophy, Alopecia, Sparse hair OMIM:242300
Bathing Suit Ichthyosis
Nail dystrophy, Impaired temperature sensation, Sparse hair, Alopecia ORPHA:100976
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Fibrodysplasia Ossificans Progressiva
Progressive cervical vertebral spine fusion, Small cervical vertebral bodies, Alopecia, Scoliosis OMIM:135100
Intellectual Developmental Disorder, Autosomal Dominant 23
Low anterior hairline, Kyphosis, Sacral dimple, Hyperlordosis, Scoliosis, Synophrys OMIM:615761
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis OMIM:618291
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Kyphosis ORPHA:1354
Metatropic Dysplasia
Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospondyly, Caudal appendage, Sc... OMIM:156530
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Scoliosis, Kyphosis OMIM:618443
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Dystrophic fingernails, Dystrophic toenail, Sparse lateral eyebrow, Nail d... ORPHA:3253
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Kyphosis, Abnormal toenail morphology, Scoliosis, Sparse hair, Vertebral segmentation d... ORPHA:1005
Monosomy 18P
Low posterior hairline, Short neck, Alopecia, Kyphoscoliosis ORPHA:1598
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair ORPHA:69735
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Bresek Syndrome
Alopecia, Scoliosis, Hemivertebrae ORPHA:85284
Multiple Carboxylase Deficiency
Ataxia, Alopecia ORPHA:148
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Scoliosis, Kyphosis OMIM:611890
Baralle-Macken Syndrome
Hirsutism, Kyphosis OMIM:619255
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Hypopla... ORPHA:2635
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Chanarin-Dorfman Syndrome
Ataxia, Alopecia OMIM:275630
Ichthyosis, Congenital, Autosomal Recessive 2
Thin nail, Small nail, Abnormal hair morphology, Alopecia OMIM:242100
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia OMIM:618282
Srd5A3-Cdg
Hypertrichosis, Abnormal sacrum morphology, Ataxia, Kyphosis ORPHA:324737
Hypervitaminosis A, Susceptibility To
Alopecia totalis OMIM:240150
4Q21 Microdeletion Syndrome
Long eyelashes, Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys ORPHA:238750
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Mcdonough Syndrome
Synophrys, Scoliosis, Kyphosis ORPHA:2471
Widow'S Peak Syndrome
Widow's peak, Kyphosis OMIM:314570
Renpenning Syndrome
Alopecia, Abnormal hair laboratory examination, Thin eyebrow ORPHA:3242
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Abnormal vertebral morphology, Nail dystrophy, Alopecia, Abs... OMIM:308205
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:234250
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Limb ataxia, Alopecia, Truncal ataxia OMIM:300100
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Hemivertebrae, Punctate vertebral calcifications, Alopecia, Sparse and thin eye... OMIM:302960
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Nail dystrophy, Brittle hair, Alopecia, Coarse hair ORPHA:75389
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Thick hair, Alopecia, Sparse hair OMIM:607626
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Uncombable hair, Short neck, Kyphosis, Slow-growing hair, Aplasia/Hypop... ORPHA:3082
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Kyphosis, Short neck, Scoliosis, Lumbar hyperlordosis, Hump-shaped mound of bone i... OMIM:313400
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple, Abnormal vertebral morphology ORPHA:3224
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Positive Romberg sign, Kyphosis, Impaired vibration sensation in the low... ORPHA:88628
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis ORPHA:525
Macs Syndrome
Sparse and thin eyebrow, Sparse hair, Scoliosis, Alopecia OMIM:613075
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Adult Syndrome
Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Abnormality of... ORPHA:978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis OMIM:606612
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Limb ataxia, Alopecia, Truncal ataxia ORPHA:412057
Rhizomelic Syndrome, Urbach Type
Short neck, Abnormal form of the vertebral bodies, Abnormal hair quantity, Kyphosis ORPHA:3098
Mucolipidosis Iii Gamma
Short neck, Scoliosis, Hyperlordosis, Kyphosis OMIM:252605
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Nail dystrophy, Alopecia, Ataxia, Sparse hair, Premature graying of hair, Nail pits OMIM:127550
Holocarboxylase Synthetase Deficiency
Ataxia, Alopecia ORPHA:79242
Brachyolmia Type 3
Short neck, Scoliosis, Platyspondyly, Kyphosis OMIM:113500
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia ORPHA:2316
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Absent eyelashes, Alopecia OMIM:147770
Uruguay Faciocardiomusculoskeletal Syndrome
Synophrys, Broad nail, Scoliosis, Kyphosis OMIM:300280
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Scoliosis, Kyphosis ORPHA:352490
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Kyphosis OMIM:259440
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Spinal deformities, Kyphoscoliosis, Coarse hair, Sparse eyebrow, Abnormal hair ... ORPHA:35173
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Chorea, Gait ataxia, Impaired pain sensation, Kyphosis ORPHA:500180
Marinesco-Sjogren Syndrome
Kyphosis, Ataxia, Limb ataxia, Gait ataxia, Scoliosis OMIM:248800
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Scoliosis, Spinal rigidity, Kyphosis ORPHA:75840
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Scoliosis, Kyphosis ORPHA:464282
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis OMIM:617435
Mitochondrial Dna Depletion Syndrome 11
Spinal deformities, Spinal rigidity, Kyphosis OMIM:615084
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis OMIM:618484
Disorder Of Sex Development-Intellectual Disability Syndrome
Abnormal hair pattern, Kyphosis, Low posterior hairline, Short neck, Spina bifida occulta, Synophrys ORPHA:2983
Trisomy 9P
Fingernail dysplasia, Kyphosis, Sacral dimple, Hypoplastic fingernail, Hypoplastic toenails, Shor... ORPHA:236
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse eyelashes, Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair OMIM:137940
Satoyoshi Syndrome
Alopecia universalis, Abnormal hair morphology, Hyperlordosis, Sparse or absent eyelashes ORPHA:3130
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Scoliosis, Kyphosis OMIM:616449
Arthrogryposis, Distal, Type 4
Low anterior hairline, Kyphosis, Low posterior hairline, Scoliosis, Lumbar scoliosis OMIM:609128
Gomez-Lopez-Hernandez Syndrome
Ataxia, Alopecia OMIM:601853
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Kyphosis OMIM:248760
Sialidosis Type 2
Ataxia, Kyphosis ORPHA:87876
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Alopecia of scalp, Alopecia, Sparse pubic hair, Kyphosis, Abnormal eyebrow mo... ORPHA:2232
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Mandibulofacial Dysostosis With Alopecia
Sparse and thin eyebrow, Sparse eyelashes, Alopecia OMIM:616367
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal form of the vertebral bodies, Scoliosis, Alopecia ORPHA:93160
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Gapo Syndrome
Sparse eyelashes, Hypoplastic nipples, Sparse hair, Alopecia, Sparse eyebrow, Nail dysplasia, Bre... OMIM:230740
Atypical Rett Syndrome
Gait ataxia, Scoliosis, Impaired pain sensation, Kyphosis ORPHA:3095
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Alopecia, Paresthesia OMIM:175500
Bruck Syndrome 1
Scoliosis, Platyspondyly, Vertebral wedging, Kyphosis OMIM:259450
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Hypoplastic ver... ORPHA:2916
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyelashes, Small nail, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sacral ... ORPHA:544488
Abnormal Hair, Joint Laxity, And Developmental Delay
Small nail, Sparse lateral eyebrow, Alopecia, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Fragile nails OMIM:242150
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Increased intervertebral space, Coro... ORPHA:93314
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Supernumerary nipple, Kyphosis ORPHA:64755
Mucopolysaccharidosis, Type Vii
Hirsutism, Anterior beaking of lower thoracic vertebrae, Coarse hair, Platyspondyly, Thoracolumba... OMIM:253220
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
Dyskeratosis Congenita, Autosomal Dominant 3
Fine hair, Alopecia, Ataxia, Nail dysplasia, Premature graying of hair OMIM:613990
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Alopecia totalis, Anonychia, Absent fingernail OMIM:609638
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Gapo Syndrome
Sparse eyelashes, Early balding, Alopecia, Abnormal form of the vertebral bodies, Sparse and thin... ORPHA:2067
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis ORPHA:536516
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Low posterior hairline, Alopecia, Paresthesia ORPHA:2959
Scapuloperoneal Spinal Muscular Atrophy
Distal sensory impairment, Scoliosis, Hyperlordosis, Kyphosis OMIM:181405
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Platyspondyly, Atlantoaxial instability, Kyphosis, Hypoplasia of the... OMIM:607326
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Alopecia, Scoliosis, Abnormal hair quantity ORPHA:457059
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79395
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal fingernail morphology, Sparse hair, Alopecia ORPHA:659
Rapp-Hodgkin Syndrome
Fine hair, Small nail, Decreased number of sweat glands, Progressive alopecia, Onychogryposis, Sp... OMIM:129400
Hurler-Scheie Syndrome
Hirsutism, Scoliosis, Kyphosis OMIM:607015
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Sparse hair, Alopecia, Abnormality of hair texture OMIM:608612
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Autosomal Recessive Ataxia, Beauce Type
Dysmetria, Kyphosis, Ataxia, Impaired vibratory sensation, Scoliosis ORPHA:88644
Ane Syndrome
Kyphoscoliosis, Alopecia ORPHA:157954
Rothmund-Thomson Syndrome, Type 2
Sparse eyelashes, Nail dystrophy, Kyphoscoliosis, Sparse eyebrow, Alopecia, Absent eyebrow, Absen... OMIM:268400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis ORPHA:3085
Pelizaeus-Merzbacher Disease
Ataxia, Scoliosis, Choreoathetosis, Kyphosis ORPHA:702
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal deformities, Spinal rigidity, Kyphosis ORPHA:352447
Gm1-Gangliosidosis, Type I
Hypertrichosis, Beaking of vertebral bodies, Kyphosis, Hypoplastic vertebral bodies, Short neck, ... OMIM:230500
Sézary Syndrome
Nail dystrophy, Alopecia ORPHA:3162
Schimmelpenning-Feuerstein-Mims Syndrome
Kyphoscoliosis, Alopecia OMIM:163200
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Bruck Syndrome
Scoliosis, Platyspondyly, Kyphosis ORPHA:2771
Ruvalcaba Syndrome
Scoliosis, Generalized hirsutism, Abnormality of vertebral epiphysis morphology, Kyphosis ORPHA:3121
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Pachyonychia Congenita
Onychogryposis of fingernail, Fingernail dysplasia, Nail dystrophy, Alopecia, Paronychia, Onychog... ORPHA:2309
Trichotillomania
Alopecia OMIM:613229
Sialidosis Type 1
Ataxia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:812
Fountain Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Thick eyebrow, Spina bifida occulta, Scoliosis, ... ORPHA:3219
Alstrom Syndrome
Alopecia, Scoliosis, Kyphosis OMIM:203800
Keutel Syndrome
Alopecia ORPHA:85202
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical vertebrae, Kyphosis ORPHA:628
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Classical-Like Ehlers-Danlos Syndrome Type 2
Impaired temperature sensation, Kyphoscoliosis, Alopecia, Kyphosis, Sacral dimple, Thoracic scoli... ORPHA:536532
Wieacker-Wolff Syndrome
Kyphosis, Hyperlordosis, High anterior hairline, Short neck, Scoliosis OMIM:314580
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Trisomy 20P
Highly arched eyebrow, Low anterior hairline, Abnormal form of the vertebral bodies, Coarse hair,... ORPHA:261318
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia ORPHA:3453
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Incontinentia Pigmenti
Broad nail, Abnormal hair morphology, Dystrophic toenail, Alopecia, Abnormal toenail morphology, ... ORPHA:464
Stickler Syndrome, Type I
Morbus Scheuermann, Beaking of vertebral bodies, Platyspondyly, Kyphosis, Spondylolisthesis, Scol... OMIM:108300
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Hypoplastic fingernail, Absent fingernail, Sparse hair ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Vertebral fusion, Hyperlordosis, Kyphosis OMIM:607155
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Small nail, Absent eyebrow, Absent eyelashes, Alopecia ORPHA:166035
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Mucoepithelial Dysplasia, Hereditary
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia OMIM:158310
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Alopecia ORPHA:453533
Hemochromatosis, Type 1
Alopecia OMIM:235200
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toen... ORPHA:1234
Schaaf-Yang Syndrome
Thick eyebrow, Scoliosis, Kyphosis OMIM:615547
Mogs-Cdg
Hirsutism, Alopecia, Long eyelashes, Thoracic scoliosis, Fair hair ORPHA:79330
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Atlantoaxial instability, Kyphosis, Ovoid vertebral bodies, Short neck, Hypoplasia... OMIM:183900
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Kyphosis OMIM:300354
Weismann-Netter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:3344
X-Linked Agammaglobulinemia
Alopecia ORPHA:47
Spondyloepiphyseal Dysplasia Congenita
Cervical instability, Platyspondyly, Back pain, Kyphosis, Spinal rigidity, Short neck, Abnormally... ORPHA:94068
Mucopolysaccharidosis, Type Iva
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosis, Hypoplasia ... OMIM:253000
Gm1 Gangliosidosis
Hirsutism, Abnormal form of the vertebral bodies, Platyspondyly, Kyphosis, Ataxia, Hyperlordosis,... ORPHA:354
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Atkin-Flaitz Syndrome
Scoliosis, Kyphosis OMIM:300431
Mucopolysaccharidosis, Type Ivb
Cervical subluxation, Platyspondyly, Ovoid vertebral bodies, Kyphosis, Hyperlordosis, Hypoplasia ... OMIM:253010
Leigh Syndrome
Athetosis, Hypertrichosis, Choreoathetosis, Chorea, Alopecia, Ataxia, Frontal hirsutism ORPHA:506
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Incontinentia Pigmenti
Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Hemivertebrae, Ridged nai... OMIM:308300
Rett Syndrome
Gait ataxia, Scoliosis, Truncal ataxia, Kyphosis OMIM:312750
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Porphyria, Congenital Erythropoietic
Hypertrichosis, Alopecia, Absent eyebrow, Vertebral compression fracture, Loss of eyelashes OMIM:263700
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Kyphosis, Spina b... ORPHA:2311
Acrodermatitis Enteropathica
Ridged nail, Alopecia, Abnormal eyebrow morphology, Abnormality of the nail, Paronychia, Ridged f... ORPHA:37
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Alopecia ORPHA:39041
Omenn Syndrome
Alopecia OMIM:603554
Mandibuloacral Dysplasia
Hypoplastic fingernail, Sparse hair, Alopecia ORPHA:2457
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Platyspondyly, Kyphosis OMIM:618476
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Fine hair, Alopecia ORPHA:228390
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia ORPHA:1647
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Nail dystrophy, Alopecia OMIM:240300
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis ORPHA:171436
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Short neck, Scoliosis ORPHA:98863
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Kyphosis ORPHA:261222
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis ORPHA:98855
Pseudoachondroplasia
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Atlantoaxial dislocation, Hypoplasia of the... OMIM:177170
3M Syndrome
Kyphosis, Thick eyebrow, Hyperlordosis, Short neck, Scoliosis, Increased vertebral height ORPHA:2616
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis ORPHA:293978
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Scoliosis, Kyphosis OMIM:211530
19P13.12 Microdeletion Syndrome
Kyphosis, Generalized hirsutism, Short neck, Scoliosis, Synophrys ORPHA:254346
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Scoliosis, Abnormality of the nail, Vertebral hypoplasia OMIM:308050
Nestor-Guillermo Progeria Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Sparse scalp hair, Sparse and thin eyebrow, Scoliosis OMIM:614008
Desbuquois Dysplasia 1
Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis OMIM:251450
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Nail dystrophy, Alopecia OMIM:226600
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Giant Cell Arteritis
Ataxia, Alopecia, Paresthesia ORPHA:397
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hemivertebrae, Kyph... ORPHA:2062
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Vertebral fusion, Coarse hair, Kyphosis, Short neck, Scoliosis OMIM:130720
Dyskeratosis Congenita
White hair, Nail dystrophy, Alopecia, Abnormal eyebrow morphology, Aplastic/hypoplastic toenail, ... ORPHA:1775
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Achondroplasia
Spinal canal stenosis, Thoracolumbar kyphosis, Kyphosis, Cervical spinal canal stenosis, Lumbar h... ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hirsutism, Prominent protruding coccyx, Prominent coccyx, Kyphosis, Ataxia, Sacral dimple, Short ... OMIM:300966
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia OMIM:615577
Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Kyphosis, Spinal rigidity, Hyperlordosis, Scoliosis ORPHA:98853
Biotinidase Deficiency
Ataxia, Alopecia OMIM:253260
Trisomy 13
Scoliosis, Abnormal eyelash morphology, Kyphosis ORPHA:3378
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Platyspondyly, Kyphosis, Hyperlordosis, Short neck, Scoliosis ORPHA:582
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Abnormality of the curvature of the vertebral column, Kyphoscoliosis, Platyspondyly, Thoracolumba... ORPHA:93360
Mend Syndrome
Kyphosis OMIM:300960
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hyperlordosis, Low posterior hairline, Short nec... ORPHA:2789
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Cono-Spondylar Dysplasia
Short neck, Short nail, Scoliosis, Kyphosis ORPHA:420794
Cockayne Syndrome Type 2
Ataxia, Scoliosis, Kyphosis ORPHA:90322
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Platyspondyly, Kyphosis OMIM:616482
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Abnormality of hair texture, Scoliosis, Hypopigmentation of hair, Ver... ORPHA:96169
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Scoliosis, Kyphosis OMIM:259420
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Alopecia ORPHA:98907
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyebrow, Absent eyelashes, Absen... ORPHA:158687
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Sparse body hair, Nail dystrophy, Absent eyelashes, Hyperconvex nail, Patchy al... OMIM:106260
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Kyphosis OMIM:301041
Mandibuloacral Dysplasia With Type B Lipodystrophy
Nail dystrophy, Alopecia, Abnormal hair morphology ORPHA:90154
3C Syndrome
Hemivertebrae, Kyphosis, Hypoplastic fingernail, Short neck, Scoliosis ORPHA:7
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Abnormality of the nail, Paresthesia ORPHA:428
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Scoliosis, Low anterior hairline, Kyphosis ORPHA:404440
Hallermann-Streiff Syndrome
Sparse eyelashes, Alopecia, Abnormality of hair texture, Sparse and thin eyebrow, Sparse hair, Sp... ORPHA:2108
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Scoliosis, Kyphosis OMIM:254090
Leprosy
Impaired temperature sensation, Paresthesia, Alopecia, Absent eyebrow, Loss of eyelashes, Dissoci... ORPHA:548
15Q24 Microdeletion Syndrome
High anterior hairline, Broad eyebrow, Scoliosis, Kyphosis ORPHA:94065
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Vertebral compression fracture, Hirsutism, Kyphosis OMIM:219090
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Mandibuloacral Dysplasia With Type A Lipodystrophy
Breast aplasia, Alopecia, Absent eyelashes, Abnormal eyebrow morphology ORPHA:90153
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Scoliosis, Kyphosis ORPHA:364028
Hurler Syndrome
Biconcave vertebral bodies, C1-C2 subluxation, Hirsutism, Kyphosis, Short neck, Hypoplasia of the... OMIM:607014
Autosomal Dominant Robinow Syndrome
Hemivertebrae, Onychogryposis of fingernail, Fingernail dysplasia, Abnormal form of the vertebral... ORPHA:3107
X-Linked Intellectual Disability, Cabezas Type
Abnormal hair pattern, Kyphosis, Short neck, Scoliosis, Synophrys ORPHA:85293
Celiac Disease, Susceptibility To, 1
Ataxia, Alopecia OMIM:212750
Postencephalitic Parkinsonism
Paresthesia, Camptocormia, Kyphosis ORPHA:97349
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
15Q14 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:617821
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the vertebral column, Thin fingernail, Abnormal hair morphology, Thin eyebrow, Abn... ORPHA:2273
Knobloch Syndrome 1
Ataxia, Alopecia OMIM:267750
Cdags Syndrome
Sparse and thin eyebrow, Sparse eyelashes, Sparse scalp hair, Kyphosis OMIM:603116
Megalocornea-Intellectual Disability Syndrome
Ataxia, Scoliosis, Kyphosis ORPHA:2479
Pycnodysostosis
Spondylolysis, Ridged nail, Kyphosis, Spondylolisthesis, Nail dysplasia, Hyperlordosis, Abnormali... ORPHA:763
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Autosomal Recessive Robinow Syndrome
Fingernail dysplasia, Alopecia, Long eyelashes, Kyphosis, Sacral dimple, Short neck, Vertebral se... ORPHA:1507
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Platyspondyly, Kyphosis, Thoracic kyphosis, Short neck, Hypoplasia o... OMIM:223800
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis OMIM:603387
H Syndrome
Alopecia, Hypertrichosis, Abnormal eyebrow morphology ORPHA:168569
Linear Nevus Sebaceus Syndrome
Vertebral segmentation defect, Alopecia ORPHA:2612
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Woodhouse-Sakati Syndrome
Fine hair, Sparse hair, Alopecia, Choreoathetosis OMIM:241080
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia OMIM:606367
Bartsocas-Papas Syndrome 1
Small nail, Alopecia, Absent eyebrow, Absent eyelashes, Alopecia totalis, Sparse scalp hair, Shor... OMIM:263650
Biotinidase Deficiency
Ataxia, Alopecia ORPHA:79241
Emanuel Syndrome
Scoliosis, Kyphosis OMIM:609029
Focal Dermal Hypoplasia
Alopecia, Scoliosis, Abnormality of the nail ORPHA:2092
Orofaciodigital Syndrome Iii
Hyperconvex nail, Kyphosis OMIM:258850
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Hirsutism ORPHA:189427
Micro Syndrome
Scoliosis, Generalized hirsutism, Kyphosis ORPHA:2510
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Weaver Syndrome
Fine hair, Thin nail, Kyphosis, Deep-set nails, Sparse hair, Scoliosis OMIM:277590
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Synophrys, Gait ataxia, Scoliosis, Kyphosis ORPHA:476126
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low anterior hairline, Hemivertebrae, Kyphosis, Short neck, Scoliosis OMIM:618223
Scleroderma
Alopecia ORPHA:801
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Scoliosis, Abnormal hair pattern, Kyphosis ORPHA:261250
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Kyphosis, Spondylolisthesis, Sacral dimple, Cervical spinal canal stenosis, Hyperlordos... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Kyphosis, Spondylolisthesis, Sacral dimple, Cervical spinal canal stenosis, Hyperlordos... ORPHA:363958
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis OMIM:248700
Dysostosis, Stanescu Type
Short neck, Scoliosis, Hyperlordosis, Kyphosis ORPHA:1798
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Hirsutism ORPHA:189439
Fucosidosis
Abnormality of the nail, Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia OMIM:248370
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Alopecia universalis, Sparse hair, Premature graying of hair ORPHA:363618
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Synophrys, Scoliosis, Kyphosis OMIM:619557
Mucopolysaccharidosis, Type Ii
Short neck, Hypertrichosis, Kyphosis OMIM:309900
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Cohen Syndrome
Low anterior hairline, Long eyelashes, Kyphosis, Thick hair, Thick eyebrow, Scoliosis, Abnormal e... ORPHA:193
Pelger-Huet Anomaly
Kyphosis OMIM:169400
2P15P16.1 Microdeletion Syndrome
Fine hair, Long eyelashes, Kyphosis, Sparse and thin eyebrow, Scoliosis, Supernumerary nipple ORPHA:261349
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
2Q31.1 Microdeletion Syndrome
Abnormal hair morphology, Low anterior hairline, Kyphosis, Hypoplastic toenails, Short neck, Vert... ORPHA:251014
Encephalocraniocutaneous Lipomatosis
Alopecia OMIM:613001
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased intervertebral space, Cervical instability, Abnormality of the cervical spine, Thoracol... ORPHA:508533
Mucopolysaccharidosis Type 6
Short neck, Ovoid vertebral bodies, Kyphosis ORPHA:583
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Hemivertebrae, Kyphosis, Short neck, Scoliosis ORPHA:958
Orofaciodigital Syndrome Type 1
Brittle hair, Coarse hair, Alopecia, Ataxia, Sparse hair ORPHA:2750
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis ORPHA:2050
Distal Monosomy 19P13.3
Alopecia, Thick eyebrow ORPHA:96129
Rett Syndrome, Congenital Variant
Athetosis, Chorea, Scoliosis, Kyphosis OMIM:613454
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hirsutism ORPHA:90795
Dyskeratosis Congenita, X-Linked
Sparse eyelashes, Split nail, Ridged nail, Nail dystrophy, Alopecia, Pterygium of nails, Ataxia, ... OMIM:305000
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hyperconvex fingernails, Hypoplastic fingernail,... ORPHA:192
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Abnormality of hair texture, Spondylolisthesis, Sacral dimple, Scolio... OMIM:610443
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Limb-Mammary Syndrome
Hypoplastic nipples, Alopecia, Sparse eyebrow, Bilateral breast hypoplasia, Nail dysplasia, Breas... ORPHA:69085
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Kyphosis, Hyperlordosis, Gait ataxia, Scoliosis OMIM:617011
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Back pain, Kyphosis OMIM:106300
Rothmund-Thomson Syndrome
Small nail, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Nail dysplasia, Abnormality of th... ORPHA:2909
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Sparse hair, Thin eyebrow, Abnormal form of the vertebra... ORPHA:2636
Schwartz-Jampel Syndrome
Long eyelashes in irregular rows, Low anterior hairline, Abnormally straight spine, Platyspondyly... ORPHA:800
Orofaciodigital Syndrome I
Sparse hair, Alopecia OMIM:311200
Prader-Willi Syndrome
Impaired pain sensation, Kyphosis, Scoliosis, Hypopigmentation of hair, Frontal upsweep of hair OMIM:176270
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Sparse and thin eyebrow, Trichiasis, Kyphosis OMIM:609944
Mgat2-Cdg
Hirsutism, Hypoplastic nipples, Long eyelashes, Kyphosis, Scoliosis ORPHA:79329
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Alopecia, Onychogryposis ORPHA:79396
Alexander Disease
Chorea, Kyphosis, Ataxia, Hyperlordosis, Short neck, Scoliosis ORPHA:58
Multiple Pterygium-Malignant Hyperthermia Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Kyphosis, Hyperconvex fingernails, Hypoplasti... ORPHA:2215
Systemic Sclerosis
Nail bed telangiectasia, Alopecia ORPHA:90291
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Impaired pain sensation, Long eyelashes, Kyphosis, Scoliosis OMIM:619005
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Campomelic Dysplasia
Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis ORPHA:140
Atypical Werner Syndrome
Abnormal hair morphology, Intervertebral disc degeneration, Alopecia, Abnormal hair quantity, Whi... ORPHA:79474
Multiple Endocrine Neoplasia, Type Iib
Thick eyebrow, Scoliosis, Hyperlordosis, Kyphosis OMIM:162300
Hajdu-Cheney Syndrome
Biconcave vertebral bodies, Low anterior hairline, Coarse hair, Hypoplastic 5th lumbar vertebrae,... ORPHA:955
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Alopecia ORPHA:37042
Spondyloenchondrodysplasia
Chorea, Platyspondyly, Kyphosis ORPHA:1855
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impaired temperature sensation, Scoliosis, Kyphosis ORPHA:398069
Colchicine Poisoning
Alopecia ORPHA:31824
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Insulin-Resistance Syndrome Type B
Alopecia, Hirsutism ORPHA:2298
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Microphthalmia, Lenz Type
Scoliosis, Hyperlordosis, Kyphosis ORPHA:568
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Highly arched eyebrow, Abnormal vertebral morphology, Abnorm... ORPHA:280
Ramon Syndrome
Hypertrichosis, Scoliosis, Kyphosis OMIM:266270
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis OMIM:618493
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Scoliosis, Sparse eyebrow, Kyphosis ORPHA:464738
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Xeroderma Pigmentosum
Ataxia, Alopecia ORPHA:910
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Kyphosis OMIM:212065
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Nail dysplasia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:221008
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis